Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZXDC	79364	broad.mit.edu	37	3	126180782	126180782	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:126180782G>A	uc003eiv.3	-	5	1777	c.1723C>T	c.(1723-1725)Ccc>Tcc	p.P575S	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.P575S	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	575					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		AGGCTTGGGGGAATATCACTG	0.602000														13			10		0	0	0.000151284	0	0
GLI3	2737	broad.mit.edu	37	7	42006170	42006170	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:42006170G>A	uc011kbh.2	-	14	2592	c.2501C>T	c.(2500-2502)tCt>tTt	p.S834F	GLI3_uc011kbg.2_Missense_Mutation_p.S775F	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	834					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L833L(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTCCACCCCAGAGAGGTCGCT	0.617000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					26			14		0	0	0.000219431	0	0
ZNF596	169270	broad.mit.edu	37	8	195476	195476	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:195476T>C	uc003wot.3	+	5	917	c.629T>C	c.(628-630)cTt>cCt	p.L210P	ZNF596_uc003wou.3_Missense_Mutation_p.L109P|ZNF596_uc003wov.3_Missense_Mutation_p.L210P|ZNF596_uc003wow.3_Missense_Mutation_p.L210P	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AATTCTAATCTTAGGCGACAT	0.423000														53			18		0	0	0.000132079	0	0
ACTL9	284382	broad.mit.edu	37	19	8808406	8808406	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:8808406G>A	uc002mkl.2	-	0	767	c.646C>T	c.(646-648)Cac>Tac	p.H216Y		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	216						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TCCGTGGCGTGGAGCAGGTTG	0.682000														18			6		0	0	8.12818e-05	0	0
WFDC10B	280664	broad.mit.edu	37	20	44313574	44313574	+	Silent	SNP	G	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:44313574G>T	uc002xpc.3	-	2	193	c.165C>A	c.(163-165)ccC>ccA	p.P55P	WFDC10B_uc002xpb.3_Silent_p.P39P	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA.	39	WAP.					extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				GATCTATGCTGGGTCGCTTCT	0.448000														20			21		2.32416e-17	2.62788e-16	0.000295444	1	0
COL28A1	340267	broad.mit.edu	37	7	7421240	7421240	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:7421240C>T	uc003src.1	-	27	2257	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K	COL28A1_uc011jxe.1_Missense_Mutation_p.E397K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	714					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTCCTTGTTCCCCCTACATA	0.468000														95			45		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774082	140774082	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:140774082C>T	uc003lkd.2	+	0	2600	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.P568S|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	570					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGCCCTCCCCACAGACGG	0.667000														41			14		0	0	0.000308642	0	0
CASR	846	broad.mit.edu	37	3	121981094	121981094	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:121981094C>T	uc003eew.4	+	3	1650	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	CASR_uc003eev.4_Silent_p.V404V	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	404					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCAGCAGTGTCGAGACCCCTT	0.483000														19			5		0	0	8.12818e-05	0	0
ATAD5	79915	broad.mit.edu	37	17	29162877	29162877	+	Nonsense_Mutation	SNP	C	G	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:29162877C>G	uc002hfs.1	+	1	2121	c.1778C>G	c.(1777-1779)tCa>tGa	p.S593*	ATAD5_uc002hft.1_Nonsense_Mutation_p.S490*	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	593					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	p.K592T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACGCCCAAGTCAACTAGAAGA	0.383000														57			15		0	0	0.000566183	0	0
NPHS1	4868	broad.mit.edu	37	19	36339065	36339065	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:36339065G>A	uc002oby.3	-	10	1474	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	440	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTCTGGGCGGGATCTGGCGGG	0.617000														23			17		0	0	0.000422831	0	0
NDST2	8509	broad.mit.edu	37	10	75567585	75567585	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:75567585G>A	uc001jvk.2	-	2	1366	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.P65S|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.P65S	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	188	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AAAAAAAGGGGAAAGCCCTTG	0.582000														11			6		0	0	3.59834e-05	0	0
ZNF679	168417	broad.mit.edu	37	7	63720720	63720720	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:63720720C>T	uc003tsx.3	+	2	430	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AACCTGGTCTCCCTGGGTGAG	0.368000														57			42		0	0	0.000781405	0	0
FNTA	2339	broad.mit.edu	37	8	42938323	42938323	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:42938323G>A	uc003xps.3	+	7	893	c.845_splice	c.e7+1	p.G282_splice	FNTA_uc003xpt.3_Splice_Site_p.G191_splice|FNTA_uc003xpv.3_Splice_Site	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	282					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TATTTGAAAGGGTAAGAGGTT	0.284000														190			28		0	0	0.000339439	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703734	187703734	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:187703734A>T	uc002upu.1	-	3	486	c.446T>A	c.(445-447)aTt>aAt	p.I149N		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	149					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTCTTGACAAATAGAGCAGAT	0.333000														49			28		0	0	0.000692331	0	0
OR10J3	441911	broad.mit.edu	37	1	159283771	159283771	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:159283771G>A	uc010piu.2	-	0	679	c.679C>T	c.(679-681)Ctt>Ttt	p.L227F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCAATCTTAAGAATGGTGGAG	0.488000														34			9		0	0	0.000442599	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247925	43247925	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:43247925G>A	uc002lbe.3	+	13	2661	c.1845G>A	c.(1843-1845)gcG>gcA	p.A615A	SLC14A2_uc010dnj.3_Silent_p.A615A	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	615						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.A615V(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGGTGGGCGATCTCAGGCT	0.562000														32			18		0	0	0.000132079	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55108195	55108195	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:55108195C>T	uc003dhf.3	+	37	3286	c.3238C>T	c.(3238-3240)Ctt>Ttt	p.L1080F		NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1080						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GACAGTCCTCCTTCTGCTCCC	0.507000														33			21		0	0	0.000720815	0	0
LRRC7	57554	broad.mit.edu	37	1	70541791	70541791	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:70541791C>T	uc001dep.3	+	21	4178	c.4148C>T	c.(4147-4149)tCc>tTc	p.S1383F	LRRC7_uc009wbg.3_Missense_Mutation_p.S667F|LRRC7_uc001deq.3_Missense_Mutation_p.S577F	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1383						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGATGGGGTCCCAAAGCCTT	0.478000														25			7		0	0	0.000442599	0	0
ABHD15	116236	broad.mit.edu	37	17	27893340	27893340	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:27893340G>A	uc002hed.2	-	0	703	c.645C>T	c.(643-645)ctC>ctT	p.L215L	TP53I13_uc002hee.3_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	215						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCGCCTCCTTGAGGTCGGACG	0.701000														10			5		0	0	3.59834e-05	0	0
EGFR	1956	broad.mit.edu	37	7	55211060	55211060	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:55211060G>T	uc003tqk.3	+	2	549	c.303G>T	c.(301-303)ttG>ttT	p.L101F	EGFR_uc003tqh.3_Missense_Mutation_p.L101F|EGFR_uc003tqi.3_Missense_Mutation_p.L101F|EGFR_uc003tqj.3_Missense_Mutation_p.L101F|EGFR_uc022adm.1_Missense_Mutation_p.L101F|EGFR_uc010kzg.2_Missense_Mutation_p.L101F|EGFR_uc022adn.1_Missense_Mutation_p.L101F|EGFR_uc011kco.2_Missense_Mutation_p.L48F	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	101					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAATTCCTTTGGAAAACCTGC	0.418000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				57			33		4.14481e-20	4.71324e-19	0.000228196	1	0
USP48	84196	broad.mit.edu	37	1	22033010	22033010	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:22033010G>A	uc010odq.2	-	16	2435	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S	USP48_uc001bfa.3_Missense_Mutation_p.P259S|USP48_uc001bfb.3_Missense_Mutation_p.P721S|USP48_uc009vqc.3_Missense_Mutation_p.P655S|USP48_uc001bfc.3_Missense_Mutation_p.P721S|USP48_uc001bfd.1_5'Flank	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	721	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AACAAATTTGGGAGAGAAGTC	0.378000														30			32		0	0	0.000409698	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					19			38		0	0	0.000270559	0	0
BC034827	0	broad.mit.edu	37	8	26237032	26237032	+	RNA	SNP	T	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:26237032T>C	uc003xew.3	-	1		c.2917A>G								Homo sapiens cDNA clone IMAGE:4826633.																		TGTTTTTTCTTCTCTTTACTT	0.398000														29			23		0	0	0.000375601	0	0
DRD2	1813	broad.mit.edu	37	11	113283578	113283578	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:113283578C>T	uc001pnz.3	-	5	1159	c.838G>A	c.(838-840)Gag>Aag	p.E280K	DRD2_uc010rwv.2_Missense_Mutation_p.E279K|DRD2_uc001poa.4_Missense_Mutation_p.E280K|DRD2_uc001pob.4_Missense_Mutation_p.E251K	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	280	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ATCTCCATCTCCAGCTCCTGG	0.672000														9			6		0	0	3.59834e-05	0	0
GLI3	2737	broad.mit.edu	37	7	42004782	42004783	+	Silent	DNP	GG	AA	AA	rs145618226		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:42004782_42004783GG>AA	uc011kbh.2	-	14	3979_3980	c.3888_3889CC>TT	c.(3886-3891)ggcctg>ggTTtg	p.1296_1297GL>GL	GLI3_uc011kbg.2_Silent_p.1237_1238GL>GL	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1296					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCTACCGGCAGGCCGAAATTCA	0.634000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					17			9		0	0	6.4e-05	0	0
KCNH6	81033	broad.mit.edu	37	17	61623084	61623084	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:61623084G>A	uc002jay.3	+	13	2886	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	KCNH6_uc010wpl.2_Missense_Mutation_p.E777K|KCNH6_uc010wpm.2_Missense_Mutation_p.E900K|KCNH6_uc002jaz.1_Missense_Mutation_p.E847K	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	936					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTCAGAACAGGAACAGCCTGA	0.572000														22			4		0	0	0.000602214	0	0
WISP1	8840	broad.mit.edu	37	8	134239694	134239694	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:134239694C>T	uc003yub.3	+	4	951	c.845C>T	c.(844-846)tCc>tTc	p.S282F	WISP1_uc003yuc.3_Missense_Mutation_p.S195F|WISP1_uc010meb.3_Missense_Mutation_p.S110F|WISP1_uc010mec.3_Silent_p.I130I|WISP1_uc010med.3_Missense_Mutation_p.S37F|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	282	CTCK.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCAGAGGCATCCATGAACTTC	0.517000														42			20		0	0	0.000229342	0	0
MICALCL	84953	broad.mit.edu	37	11	12315206	12315206	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:12315206G>A	uc001mkg.1	+	2	519	c.228G>A	c.(226-228)agG>agA	p.R76R		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	76	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAGCACCCAGGGAAATTCCCC	0.582000														50			21		0	0	0.000586117	0	0
CPA3	1359	broad.mit.edu	37	3	148614368	148614368	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:148614368C>T	uc003ewm.3	+	10	1180	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	376					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACACATTTGCCTTTGAGCTCC	0.413000														31			32		0	0	0.000491102	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717242	13717242	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:13717242T>A	uc001rbt.2	-	12	3109	c.2930A>T	c.(2929-2931)gAc>gTc	p.D977V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	977					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACGTTGCTGTCCTTCAGCTG	0.542000														19			16		0	0	0.000422831	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294979	55294979	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:55294979G>A	uc010erz.1	+	7	975	c.937G>A	c.(937-939)Gcg>Acg	p.A313T	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010yfl.2_5'Flank|KIR3DL2_uc021vbm.1_5'Flank|KIR2DL1_uc010erw.1_Missense_Mutation_p.A288T|KIR2DL1_uc002qgz.1_Missense_Mutation_p.A197T|KIR2DL1_uc002qhb.1_Missense_Mutation_p.A287T	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	287					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AAACAGAACAGCGAATAGCGA	0.522000														32			19		0	0	0.000295444	0	0
AP2M1	1173	broad.mit.edu	37	3	183900603	183900604	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:183900603_183900604CC>TT	uc021xig.1	+	9	1163_1164	c.1120_1121CC>TT	c.(1120-1122)cct>TTt	p.P374F	AP2M1_uc003fmw.3_Missense_Mutation_p.P372F|AP2M1_uc021xif.1_Missense_Mutation_p.P190F|AP2M1_uc011bqy.2_Missense_Mutation_p.P244F|AP2M1_uc011bqz.2_Missense_Mutation_p.P190F	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA.	374	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGAGCTTCTGCCTACCAACGAC	0.554000														18			10		0	0	6.4e-05	0	0
OR4S1	256148	broad.mit.edu	37	11	48328285	48328285	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:48328285G>A	uc010rhu.2	+	0	511	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGGCCCAATGAGATAGACAA	0.552000														26			17		0	0	0.000566183	0	0
LPP	4026	broad.mit.edu	37	3	188242563	188242563	+	Silent	SNP	T	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:188242563T>C	uc003frs.2	+	4	663	c.417T>C	c.(415-417)ccT>ccC	p.P139P	LPP_uc011bsg.2_Silent_p.P139P|LPP_uc011bsi.2_Silent_p.P139P|LPP_uc003frt.3_Silent_p.P139P	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	139	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCTATAAGCCTCGGCCTCCAC	0.527000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									54			18		0	0	0.000175454	0	0
PCDHB17	54661	broad.mit.edu	37	5	140536860	140536860	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:140536860G>A	uc003lis.3	+	0	1281	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		CAGACTTGGGGACACCCAGGC	0.517000														18			8		0	0	0.000274275	0	0
TBX20	57057	broad.mit.edu	37	7	35244193	35244193	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:35244193C>T	uc011kas.2	-	7	1371	c.891_splice	c.e7-1	p.R297_splice		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	297						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TCCACACTTTCCCTAGGTTAG	0.438000														9			7		0	0	0.000442599	0	0
OR10A6	390093	broad.mit.edu	37	11	7949332	7949332	+	Missense_Mutation	SNP	C	T	T	rs143603778		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:7949332C>T	uc010rbh.2	-	0	878	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293Q(4)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTATTTCGCAAACTGTA	0.418000														32			16		0	0	0.000566183	0	0
USP2	9099	broad.mit.edu	37	11	119229734	119229735	+	Splice_Site	DNP	GG	AA	AA			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:119229734_119229735GG>AA	uc001pwm.4	-	6	1467	c.1172_splice	c.e6+1	p.P391_splice	USP2_uc001pwl.4_Splice_Site_p.P182_splice|USP2_uc001pwn.4_Splice_Site_p.P148_splice	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	391					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCTTACTTACGGAAGATGATCG	0.450000														19			15		0	0	6.4e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	41408906	41408906	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:41408906G>A	uc002xkg.3	-	3	704	c.520C>T	c.(520-522)Cct>Tct	p.P174S	PTPRT_uc010ggj.3_Missense_Mutation_p.P174S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	174	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.H173Y(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGTAGCCAGGATGACCCTTC	0.522000														30			13		0	0	0.000151284	0	0
INHBA	3624	broad.mit.edu	37	7	41729763	41729763	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:41729763G>A	uc003thq.3	-	1	1001	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	INHBA_uc003thr.3_Missense_Mutation_p.L256F	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	256					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.V255_L256insR(2)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						tTGCCCAGGAGAACCAAGCTG	0.587000										TSP Lung(11;0.080)				17			9		0	0	0.000274275	0	0
DSE	29940	broad.mit.edu	37	6	116752308	116752308	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:116752308C>T	uc011ebg.2	+	3	1018	c.919C>T	c.(919-921)Ccg>Tcg	p.P307S	DSE_uc003pws.3_Missense_Mutation_p.P288S|DSE_uc003pwt.3_Missense_Mutation_p.P288S|DSE_uc003pwu.3_5'Flank	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	288					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CTTTGGCCATCCGTGGCTTAA	0.413000														26			13		0	0	0.00010058	0	0
ZNF610	162963	broad.mit.edu	37	19	52869199	52869199	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:52869199C>T	uc002pyx.4	+	5	974	c.568C>T	c.(568-570)Cca>Tca	p.P190S	ZNF610_uc002pyy.4_Missense_Mutation_p.P190S|ZNF610_uc002pyz.4_Missense_Mutation_p.P147S|ZNF610_uc002pza.3_Missense_Mutation_p.P190S	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CCCATTACTCCCACAAGAAGA	0.333000														65			11		0	0	0.000673444	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712768	70712768	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:70712768C>T	uc010ttg.2	-	0	1751	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		AAAACGGTTTCCCTGAGAGTT	0.388000														62			24		0	0	0.00047179	0	0
ZNF236	7776	broad.mit.edu	37	18	74639998	74639999	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:74639998_74639999GG>AA	uc002lmi.3	+	24	4722_4723	c.4524_4525GG>AA	c.(4522-4527)caggcc>caAAcc	p.A1509T	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1509					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCCTGGCACAGGCCGCTGGGCC	0.545000														25			14		0	0	6.4e-05	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716619	13716619	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:13716619C>T	uc001rbt.2	-	12	3732	c.3553G>A	c.(3553-3555)Gac>Aac	p.D1185N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1185					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGTGTTTGTCGCCCGTCCCG	0.622000														14			9		0	0	0.000978159	0	0
PSG7	5676	broad.mit.edu	37	19	43439843	43439843	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:43439843C>T	uc002ovl.4	-	1	245	c.143G>A	c.(142-144)gGg>gAg	p.G48E	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	48	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				AACATCCTTCCCCTCGGAAAC	0.483000														89			38		0	0	0.00111076	0	0
MS4A12	54860	broad.mit.edu	37	11	60265037	60265037	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:60265037G>A	uc001npr.3	+	1	303	c.246G>A	c.(244-246)atG>atA	p.M82I	MS4A12_uc009ynb.3_Missense_Mutation_p.M82I|MS4A12_uc021qkb.1_Missense_Mutation_p.M82I	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	82						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CAGCAGTAATGAACTTTAAAG	0.393000														19			11		0	0	0.000673444	0	0
ZNF208	7757	broad.mit.edu	37	19	22156143	22156143	+	Missense_Mutation	SNP	A	G	G	rs112237751		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:22156143A>G	uc021urr.1	-	3	1842	c.1693T>C	c.(1693-1695)Tcc>Ccc	p.S565P	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.P564T(1)|p.Y565N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGGTTGAGGACCACTTATAG	0.348000														17			3		0	0	6.4e-05	0	0
SLC25A46	91137	broad.mit.edu	37	5	110077790	110077790	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:110077790G>A	uc003koz.3	+	2	393	c.326_splice	c.e2+1	p.S109_splice	SLC25A46_uc011cvi.2_Splice_Site_p.S18_splice	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	Homo sapiens solute carrier family 25, member 46 (SLC25A46), mRNA.	109					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GGACTTGCAAGGTAATGTTTT	0.244000														50			16		0	0	0.000958276	0	0
SLC15A2	6565	broad.mit.edu	37	3	121613396	121613396	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:121613396C>T	uc003eep.2	+	0	226	c.73C>T	c.(73-75)Cga>Tga	p.R25*	SLC15A2_uc011bjn.1_Nonsense_Mutation_p.R25*	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	25					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GGTACCACCTCGACCACCTAG	0.502000														62			44		0	0	0.000781405	0	0
ACAP2	23527	broad.mit.edu	37	3	195009893	195009893	+	Silent	SNP	A	G	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:195009893A>G	uc003fun.4	-	20	2372	c.2131T>C	c.(2131-2133)Ttg>Ctg	p.L711L		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	711					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCTATGCTCAAAGGGTCTTTC	0.403000														44			22		0	0	0.000586117	0	0
FBXO31	79791	broad.mit.edu	37	16	87367562	87367562	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:87367562C>T	uc002fjw.3	-	7	1371	c.1327G>A	c.(1327-1329)Ggg>Agg	p.G443R	FBXO31_uc010vot.2_Missense_Mutation_p.G271R|FBXO31_uc002fjv.3_Missense_Mutation_p.G335R	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	443					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AACGGCTGCCCCTGCCCACAC	0.677000														5			6		0	0	3.59834e-05	0	0
MYO3B	140469	broad.mit.edu	37	2	171375994	171375994	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:171375994C>T	uc002ufy.3	+	29	3662	c.3519C>T	c.(3517-3519)tcC>tcT	p.S1173S	MYO3B_uc002ufv.3_Silent_p.S1160S|MYO3B_uc010fqb.1_Silent_p.S1173S|MYO3B_uc002ufz.3_Silent_p.S1146S|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1173					response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGCAGAATCCAACAATGGCC	0.468000														18			11		0	0	0.00010058	0	0
AWAT2	158835	broad.mit.edu	37	X	69261693	69261693	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:69261693C>T	uc004dxt.1	-	6	973	c.967G>A	c.(967-969)Ggt>Agt	p.G323S		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	323						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TCTGAGATACCAAACTTGGTC	0.483000														2			15		0	0	0.00074312	0	0
PCLO	27445	broad.mit.edu	37	7	82584366	82584366	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:82584366G>A	uc003uhx.2	-	4	6192	c.5903C>T	c.(5902-5904)tCg>tTg	p.S1968L	PCLO_uc003uhv.2_Missense_Mutation_p.S1968L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1899					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCATCTACCGATCCATTGTA	0.363000														57			56		0	0	0.000781405	0	0
PON1	5444	broad.mit.edu	37	7	94947640	94947640	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:94947640C>T	uc003uns.3	-	1	237	c.140G>A	c.(139-141)gGa>gAa	p.G47E	PON1_uc011kih.2_Intron	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	47					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CATACCGATTCCTTTAACTAA	0.388000														59			14		0	0	0.000422831	0	0
O3FAR1	338557	broad.mit.edu	37	10	95335922	95335922	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:95335922G>A	uc010qnt.2	+	1	698	c.642G>A	c.(640-642)ttG>ttA	p.L214L	O3FAR1_uc010qnu.2_Silent_p.L214L	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	214					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						TTGTTACTTTGAACTTCTTGG	0.433000														55			18		0	0	0.000132079	0	0
THY1	7070	broad.mit.edu	37	11	119290151	119290151	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:119290151G>A	uc001pwr.3	-	3	901	c.453C>T	c.(451-453)tcC>tcT	p.S151S	LOC100499227_uc001pwo.3_Intron|LOC100499227_uc001pwp.2_Intron	NM_006288	NP_006279	P04216	THY1_HUMAN	Homo sapiens Thy-1 cell surface antigen (THY1), mRNA.	151					T cell receptor signaling pathway|angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of T cell receptor signaling pathway|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|positive regulation of T cell activation|positive regulation of release of sequestered calcium ion into cytosol|retinal cone cell development	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|Rho GTPase activator activity|integrin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CCTGGAGGAGGGAGAGGGAGA	0.587000														18			11		0	0	0.000978159	0	0
CDRT1	374286	broad.mit.edu	37	17	15518999	15519000	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:15518999_15519000GG>AT	uc002gor.1	-	7	1896_1897	c.1559_1560CC>AT	c.(1558-1560)gcc>gAT	p.A520D	CDRT1_uc002gov.4_Missense_Mutation_p.A210D			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	210										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CATTTTCTGGGGCTTTGGACAA	0.500000														9			7		0	0	6.4e-05	0	0
TMEM130	222865	broad.mit.edu	37	7	98452871	98452871	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:98452871G>A	uc003upo.3	-	4	984	c.795C>T	c.(793-795)ttC>ttT	p.F265F	TMEM130_uc011kiq.2_Silent_p.F246F|TMEM130_uc011kir.2_Silent_p.F265F|TMEM130_uc003upn.3_Silent_p.F163F	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	265						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCCCCAGGAAGTTCAAGG	0.572000														15			12		0	0	0.00010058	0	0
ODZ4	26011	broad.mit.edu	37	11	78413143	78413143	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:78413143G>A	uc001ozl.4	-	27	4978	c.4515C>T	c.(4513-4515)ctC>ctT	p.L1505L		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1505					signal transduction	integral to membrane		p.S1504P(1)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCCCAGCAACGAGTGAGATCT	0.473000														11			11		0	0	0.000673444	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654137	61654137	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:61654137C>T	uc002ljv.3	+	6	919	c.750C>T	c.(748-750)ttC>ttT	p.F250F	SERPINB8_uc002lju.3_Silent_p.F250F|SERPINB8_uc010xex.2_Silent_p.F68F	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	250					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ATGAGAAATTCAAAGCCTGGA	0.373000														79			68		0	0	0.000781405	0	0
LRTM1	57408	broad.mit.edu	37	3	54958924	54958924	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:54958924G>A	uc003dhl.3	-	1	460	c.326C>T	c.(325-327)tCa>tTa	p.S109L	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	109						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GGAAAGGAGTGAATTCTGGGT	0.468000														19			9		0	0	0.000442599	0	0
PES1	23481	broad.mit.edu	37	22	30974944	30974944	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:30974944C>T	uc003aij.2	-	13	1670	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K	PES1_uc003aik.2_Silent_p.K516K|PES1_uc003aio.1_Silent_p.K382K|PES1_uc003ain.1_Silent_p.K382K	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	521	Glu-rich.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCAGCCGCTGCTTATCCTCCA	0.582000														21			8		0	0	0.000274275	0	0
SUZ12	23512	broad.mit.edu	37	17	30325968	30325968	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:30325968G>A	uc002hgs.2	+	15	2388	c.2166G>A	c.(2164-2166)ttG>ttA	p.L722L	SUZ12_uc002hgt.2_Silent_p.L699L	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	722					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AGAAAGCTTTGGAAACAGATA	0.363000			T	JAZF1	endometrial stromal tumours									22			6		0	0	0.000274275	0	0
DGKI	9162	broad.mit.edu	37	7	137271890	137271890	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:137271890G>A	uc003vtt.3	-	12	1379	c.1378C>T	c.(1378-1380)Cct>Tct	p.P460S	DGKI_uc003vtu.3_Missense_Mutation_p.P160S	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	460	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTCCCCAGAGGAAGGACCCCC	0.567000														9			7		0	0	8.12818e-05	0	0
IQSEC2	23096	broad.mit.edu	37	X	53268417	53268417	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:53268417G>A	uc004dsd.3	-	10	3276	c.3075C>T	c.(3073-3075)ttC>ttT	p.F1025F	IQSEC2_uc004dsc.3_Silent_p.F820F	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	1015	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCACGAGGGGGAAAGACTGAC	0.512000											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			19		0	0	0.00047179	0	0
PRR16	51334	broad.mit.edu	37	5	120021677	120021677	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:120021677C>T	uc003ksq.3	+	1	351	c.188C>T	c.(187-189)tCt>tTt	p.S63F	PRR16_uc003ksp.3_Missense_Mutation_p.S40F|PRR16_uc003ksr.3_5'UTR	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	63										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACCCTGACCTCTGACCTACAG	0.438000														34			17		0	0	0.000566183	0	0
TMEM44	93109	broad.mit.edu	37	3	194336417	194336417	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:194336417G>A	uc010hzn.3	-	7	1140	c.934C>T	c.(934-936)Ctt>Ttt	p.L312F	TMEM44_uc010hzm.3_5'UTR|TMEM44_uc021xjc.1_5'UTR|TMEM44_uc003fuc.3_5'UTR|TMEM44_uc003fuf.3_Missense_Mutation_p.L265F|TMEM44_uc003fue.3_Missense_Mutation_p.L265F|TMEM44_uc011bsv.2_Missense_Mutation_p.L265F|TMEM44_uc003fuh.1_Non-coding_Transcript	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	312						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		ACACACGAAAGGAAAATAATC	0.522000														84			49		0	0	0.000781405	0	0
LGI2	55203	broad.mit.edu	37	4	25026478	25026478	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:25026478C>T	uc003grf.2	-	3	476	c.377G>A	c.(376-378)aGa>aAa	p.R126K		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	126						extracellular region		p.S125*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AAAGGCATTTCTTGAAATGGT	0.368000														30			16		0	0	0.000132079	0	0
TCRA	0	broad.mit.edu	37	14	22363109	22363109	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:22363109C>T	uc021rpj.1	+	1	411	c.240C>T	c.(238-240)aaC>aaT	p.N80N	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		AAGGCATCAACGGTTTTGAGG	0.507000														13			19		0	0	0.00074312	0	0
C12orf63	374467	broad.mit.edu	37	12	97136223	97136223	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:97136223G>A	uc021rcc.1	+	18	2431	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	785										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTAGGTCACTGAAAATAAAGA	0.348000														20			13		0	0	0.000308642	0	0
ITPR1	3708	broad.mit.edu	37	3	4853113	4853114	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:4853113_4853114AG>GA	uc003bqc.3	+	54	7742_7743	c.7392_7393AG>GA	c.(7390-7395)gtagat>gtGAat	p.D2465N	ITPR1_uc021wsi.1_Missense_Mutation_p.D2432N|ITPR1_uc021wsj.1_Missense_Mutation_p.D2417N|ITPR1_uc011asu.2_Missense_Mutation_p.D443N|ITPR1_uc010hcc.2_Missense_Mutation_p.D200N|ITPR1_uc011asv.2_Missense_Mutation_p.D156N	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2480					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCTTGGAAGTAGATAGGCTGCC	0.406000														45			16		0	0	6.4e-05	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987825	7987825	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:7987825G>A	uc003mxx.4	+	0	1491	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		CCACAGCCATGGAATTCATCC	0.532000														6			5		0	0	0.000602214	0	0
PTPRD	5789	broad.mit.edu	37	9	8317942	8317942	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:8317942C>T	uc003zkk.3	-	46	6414	c.5671_splice	c.e46-1	p.D1891_splice	PTPRD_uc003zkp.3_Splice_Site_p.D1485_splice|PTPRD_uc003zkq.3_Splice_Site_p.D1484_splice|PTPRD_uc003zkr.3_Splice_Site_p.D1475_splice|PTPRD_uc003zks.3_Splice_Site_p.D1484_splice|PTPRD_uc022bdj.1_Splice_Site_p.D1481_splice	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1891	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATATTGATCCTGCAGGAGA	0.383000										TSP Lung(15;0.13)				9			9		0	0	0.000673444	0	0
BCAS1	8537	broad.mit.edu	37	20	52601880	52601880	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:52601880G>A	uc002xws.2	-	6	1424	c.1086C>T	c.(1084-1086)acC>acT	p.T362T	BCAS1_uc010zza.1_Silent_p.T120T|BCAS1_uc010zzb.1_Silent_p.T310T|BCAS1_uc010gim.2_Silent_p.T310T|BCAS1_uc002xwt.2_Silent_p.T362T|BCAS1_uc010gil.1_Silent_p.T362T	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	362						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ATTTCTCCTTGGTGCCTTCCT	0.547000														45			25		0	0	0.000227799	0	0
MUC16	94025	broad.mit.edu	37	19	9085314	9085314	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:9085314C>T	uc002mkp.3	-	0	6705	c.6501G>A	c.(6499-6501)ccG>ccA	p.P2167P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2167	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCTAAACTCGGGTTAGCAG	0.468000														20			12		0	0	0.000978159	0	0
JAK1	3716	broad.mit.edu	37	1	65344732	65344732	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:65344732G>A	uc001dbu.1	-	3	554	c.305C>T	c.(304-306)tCc>tTc	p.S102F	JAK1_uc009wam.1_Missense_Mutation_p.S102F|JAK1_uc001dbv.3_5'Flank	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	102	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GAGCCGGAGGGACATCTTGTC	0.552000			Mis		ALL									12			7		0	0	8.12818e-05	0	0
UTP20	27340	broad.mit.edu	37	12	101755832	101755832	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:101755832G>A	uc001tia.1	+	43	5940	c.5784G>A	c.(5782-5784)atG>atA	p.M1928I		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1928					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TAGATATAATGATTGAGGTAA	0.378000														45			30		0	0	0.000279167	0	0
ZNF716	441234	broad.mit.edu	37	7	57510016	57510016	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:57510016C>T	uc011kdi.1	+	0	134	c.22C>T	c.(22-24)Cct>Tct	p.P8S		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ACCGGGACCCCCTGGAAGCCG	0.562000														11			9		0	0	0.000978159	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847964	18847964	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:18847964C>T	uc021qvx.1	-	11	1532	c.1341G>A	c.(1339-1341)ggG>ggA	p.G447G	PLCZ1_uc001rdv.4_Silent_p.G343G|PLCZ1_uc001rdw.4_Silent_p.G188G|PLCZ1_uc001rdu.1_Silent_p.G229G|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	447	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCAAAAATTTCCCATTTTGCA	0.348000														24			14		0	0	0.000219431	0	0
AFF3	3899	broad.mit.edu	37	2	100210279	100210279	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:100210279C>T	uc002taf.3	-	13	2063	c.1919G>A	c.(1918-1920)gGg>gAg	p.G640E	AFF3_uc002tag.3_Missense_Mutation_p.G615E|AFF3_uc010fiq.1_Missense_Mutation_p.G615E|AFF3_uc010yvr.1_Missense_Mutation_p.G768E|AFF3_uc002tah.1_Missense_Mutation_p.G640E	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	615					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACGCTCGTCCCCAGCGCGTC	0.731000														5			15		0	0	0.000566183	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664422	5664422	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:5664422C>T	uc001mbh.3	+	7	1107	c.950C>T	c.(949-951)tCa>tTa	p.S317L	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.S671L|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.S317L|TRIM6-TRIM34_uc009yer.3_Non-coding_Transcript	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	671						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CTTGTCCTTTCAGAAGATCAG	0.333000														13			8		0	0	0.000274275	0	0
EDNRA	1909	broad.mit.edu	37	4	148463717	148463717	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:148463717G>A	uc003iky.3	+	7	1761	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	EDNRA_uc011cid.2_Missense_Mutation_p.D186N|EDNRA_uc010ipg.2_Missense_Mutation_p.D302N|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	411					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GAAGAACCACGATCAAAACAA	0.522000														16			10		0	0	0.000442599	0	0
AMPD3	272	broad.mit.edu	37	11	10483082	10483082	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:10483082C>T	uc001min.1	+	1	388	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	AMPD3_uc010rbz.1_5'UTR|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Missense_Mutation_p.P6S|AMPD3_uc001mio.1_Missense_Mutation_p.P6S|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.P13S|AMPD3_uc009yfy.2_Missense_Mutation_p.P6S	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	6					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GCGGCAGTTTCCCAAGCTGAA	0.542000														60			35		0	0	0.000270559	0	0
NLRP5	126206	broad.mit.edu	37	19	56539225	56539225	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:56539225G>A	uc002qmj.3	+	6	1626	c.1626G>A	c.(1624-1626)agG>agA	p.R542R	NLRP5_uc002qmi.3_Silent_p.R523R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	542	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTGGAATAGGAAGTCAGTGT	0.562000														11			9		0	0	0.000442599	0	0
PTPRN	5798	broad.mit.edu	37	2	220164775	220164775	+	Silent	SNP	G	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:220164775G>T	uc002vkz.3	-	8	1609	c.1368C>A	c.(1366-1368)ccC>ccA	p.P456P	PTPRN_uc010zlc.2_Silent_p.P366P|PTPRN_uc002vla.3_Silent_p.P456P	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	456					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTGCCACCGTGGGCTGGCTCT	0.602000														26			17		1.37522e-17	1.55937e-16	0.000958276	1	0
AIM1L	55057	broad.mit.edu	37	1	26669245	26669245	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:26669245C>T	uc001bmd.4	-	5	3354	c.3204_splice	c.e5+1	p.W1068_splice		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	23							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACTCACTCACCCAGACAACCC	0.587000														46			9		0	0	0.000442599	0	0
SCN7A	6332	broad.mit.edu	37	2	167284358	167284358	+	Silent	SNP	T	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:167284358T>C	uc002udu.2	-	16	2923	c.2793A>G	c.(2791-2793)gtA>gtG	p.V931V	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	931					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AATTGTTCTCTACAATCTTGC	0.468000														9			4		0	0	0.00024832	0	0
BRD4	23476	broad.mit.edu	37	19	15376315	15376315	+	Silent	SNP	G	A	A	rs141035305	by1000genomes	TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:15376315G>A	uc002nar.3	-	4	921	c.699C>T	c.(697-699)atC>atT	p.I233I	BRD4_uc002nas.3_Silent_p.I233I|BRD4_uc002nat.3_Silent_p.I233I|BRD4_uc002nau.4_Silent_p.I233I	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	233					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGTCTGGACGATGAGGTCCG	0.692000			T	C15orf55	lethal midline carcinoma of young people									25			15		0	0	0.000308642	0	0
OR4M1	441670	broad.mit.edu	37	14	20248886	20248886	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:20248886C>T	uc010tku.2	+	0	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGCTACCATCATGAATCGAC	0.498000														20			27		0	0	0.00058488	0	0
RNF213	57674	broad.mit.edu	37	17	78319813	78319813	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:78319813C>T	uc002jyh.2	+	29	7968	c.7825C>T	c.(7825-7827)Cct>Tct	p.P2609S	RNF213_uc021uen.1_Missense_Mutation_p.P2560S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGCTCCATTCCTCTGAGGCA	0.562000														15			11		0	0	0.000978159	0	0
OR4N5	390437	broad.mit.edu	37	14	20612593	20612593	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:20612593G>A	uc010tla.2	+	0	699	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K233R(2)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTGAAGGAAAGAGCAAGGCTA	0.498000														10			15		0	0	0.000219431	0	0
DIS3L2	129563	broad.mit.edu	37	2	233001212	233001212	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:233001212C>T	uc010fxz.3	+	7	1009	c.733C>T	c.(733-735)Cga>Tga	p.R245*	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	245							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AAAACATTCTCGAGCAGCAAC	0.433000														47			9		0	0	0.000442599	0	0
PCLO	27445	broad.mit.edu	37	7	82584459	82584459	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:82584459C>T	uc003uhx.2	-	4	6099	c.5810G>A	c.(5809-5811)cGa>cAa	p.R1937Q	PCLO_uc003uhv.2_Missense_Mutation_p.R1937Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1868					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTTCATCTCGTTCATTTGC	0.363000														42			36		0	0	0.000228196	0	0
SUN5	140732	broad.mit.edu	37	20	31577456	31577456	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:31577456C>T	uc002wyi.3	-	8	676	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	195					spermatogenesis			p.E195*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCTGGCTTTTCGATGTAATCT	0.488000														21			9		0	0	0.00010058	0	0
KCTD5	54442	broad.mit.edu	37	16	2747994	2747994	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:2747994C>T	uc002crd.3	+	2	504	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 5 (KCTD5), mRNA.	150					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						AGCAAAACATCGCAGGTGAGA	0.458000														11			7		0	0	8.12818e-05	0	0
ROS1	6098	broad.mit.edu	37	6	117704553	117704553	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:117704553G>A	uc003pxp.1	-	15	2622	c.2423C>T	c.(2422-2424)tCa>tTa	p.S808L	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	808					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCTTTCCACTGAATAGAGTGT	0.433000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									30			12		0	0	0.000151284	0	0
MAST1	22983	broad.mit.edu	37	19	12958212	12958212	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:12958212G>A	uc002mvm.3	+	4	564	c.436G>A	c.(436-438)Gag>Aag	p.E146K	MAST1_uc021upp.1_5'UTR	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	146					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CATCACAGACGAGGATGGTGG	0.652000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			10		0	0	0.000442599	0	0
EPB41L1	2036	broad.mit.edu	37	20	34775631	34775631	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:34775631C>T	uc002xfb.3	+	7	990	c.819C>T	c.(817-819)ttC>ttT	p.F273F	EPB41L1_uc002xeu.3_Silent_p.F211F|EPB41L1_uc010zvo.1_Silent_p.F273F|EPB41L1_uc002xev.3_Silent_p.F273F|EPB41L1_uc002xew.3_Silent_p.F176F|EPB41L1_uc002xex.3_Silent_p.F242F|EPB41L1_uc002xey.3_Silent_p.F200F|EPB41L1_uc002xez.3_Silent_p.F211F	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	273	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAATCCACTTCTTAGAGAATG	0.552000														12			5		0	0	0.000157383	0	0
DNAH7	56171	broad.mit.edu	37	2	196729544	196729544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:196729544C>T	uc002utj.4	-	40	6936	c.6835G>A	c.(6835-6837)Gag>Aag	p.E2279K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2279					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGGTATCCTCCCTCTTGGGA	0.378000														49			21		0	0	0.000375601	0	0
OR8K3	219473	broad.mit.edu	37	11	56086116	56086116	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:56086116C>T	uc010rjf.2	+	0	334	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112R(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGGTAGTGAACTTTTTATTCT	0.378000														52			30		0	0	0.000409698	0	0
FAM63B	54629	broad.mit.edu	37	15	59139614	59139614	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr15:59139614G>A	uc002afj.3	+	6	1689	c.1487G>A	c.(1486-1488)cGa>cAa	p.R496Q	FAM63B_uc002afi.3_Missense_Mutation_p.R496Q|FAM63B_uc002afk.3_Non-coding_Transcript|FAM63B_uc002afl.3_Non-coding_Transcript	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA.	496										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TTTCATCTTCGACCTCCTTCA	0.383000														32			13		0	0	0.00010058	0	0
BRCA2	675	broad.mit.edu	37	13	32893249	32893249	+	Missense_Mutation	SNP	C	T	T	rs80359262		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr13:32893249C>T	uc001uub.1	+	2	330	c.103C>T	c.(103-105)Ctt>Ttt	p.L35F	BRCA2_uc001uua.1_5'UTR	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	35	Interaction with PALB2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTTTGAAGAACTTTCTTCAGA	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				59			27		0	0	0.000279167	0	0
NPAS4	266743	broad.mit.edu	37	11	66192030	66192030	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:66192030C>T	uc001ohx.1	+	6	1845	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	NPAS4_uc010rpc.1_Missense_Mutation_p.P347S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	557					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GAGCCCCAACCCTACCAAGAC	0.582000														46			14		0	0	0.000151284	0	0
FAM59A	64762	broad.mit.edu	37	18	29867642	29867642	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:29867642G>A	uc002kxl.3	-	3	974	c.918C>T	c.(916-918)ttC>ttT	p.F306F	FAM59A_uc002kxk.2_Silent_p.F306F	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	306	CABIT.									endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CTGGGAGGCTGAACTTGGGGA	0.527000														26			11		0	0	0.00010058	0	0
MUC16	94025	broad.mit.edu	37	19	9049655	9049655	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:9049655G>A	uc002mkp.3	-	4	32180	c.31976C>T	c.(31975-31977)tCg>tTg	p.S10659L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10661	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTGTCCCCGAAATAGTGAC	0.498000														31			17		0	0	0.000175454	0	0
PDE1C	5137	broad.mit.edu	37	7	31904624	31904624	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:31904624G>A	uc003tcm.2	-	6	1143	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	PDE1C_uc003tcn.1_Missense_Mutation_p.H228Y|PDE1C_uc003tco.2_Missense_Mutation_p.H288Y|PDE1C_uc003tcr.3_Missense_Mutation_p.H228Y|PDE1C_uc003tcs.3_Missense_Mutation_p.H228Y	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	228	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATTAAGTTATGGTAAGGATTT	0.458000														18			8		0	0	0.000274275	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938803	119938803	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:119938803C>T	uc003yon.4	-	3	1070	c.747G>A	c.(745-747)caG>caA	p.Q249Q	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	249	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GCTGGAAAGTCTGTTCTTGTG	0.398000														73			86		0	0	0.000781405	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95170890	95170891	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:95170890_95170891CC>AA	uc003htb.4	+	6	968_969	c.791_792CC>AA	c.(790-792)ccc>cAA	p.P264Q	SMARCAD1_uc003htc.4_Missense_Mutation_p.P264Q|SMARCAD1_uc003htd.4_Missense_Mutation_p.P264Q|SMARCAD1_uc010ila.3_Missense_Mutation_p.P127Q	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	264	CUE 2.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.P264H(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAGGAATTTCCCAATTTTGATA	0.332000														103			9		0	0	6.4e-05	0	0
CD2AP	23607	broad.mit.edu	37	6	47576971	47576971	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:47576971C>T	uc003oyw.3	+	15	2201	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	582					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	p.S582C(2)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAAAAAATTCCCTGGATGAA	0.393000														33			19		0	0	0.000175454	0	0
HOMER1	9456	broad.mit.edu	37	5	78672008	78672008	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:78672008G>A	uc003kfy.3	-	8	1992	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HOMER1_uc010jab.3_3'UTR|HOMER1_uc010jac.3_Missense_Mutation_p.R167W|HOMER1_uc010jad.3_Missense_Mutation_p.R123W	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	297					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCTTTGTTCCGAATTTCTACT	0.368000														42			22		0	0	0.000586117	0	0
ZNF496	84838	broad.mit.edu	37	1	247464421	247464421	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:247464421G>A	uc009xgv.3	-	7	1309	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S	ZNF496_uc001ico.3_Silent_p.S388S	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	388					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGCTCCGGTGGGAGGCGGGGA	0.632000														18			6		0	0	3.59834e-05	0	0
PDE4C	5143	broad.mit.edu	37	19	18322646	18322646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:18322646C>T	uc010xqc.2	-	13	2194	c.1714G>A	c.(1714-1716)Gga>Aga	p.G572R	PDE4C_uc002nik.4_Missense_Mutation_p.G572R|PDE4C_uc002nil.4_Missense_Mutation_p.G572R|PDE4C_uc002nig.4_Missense_Mutation_p.G287R|PDE4C_uc002nih.4_Missense_Mutation_p.G342R|PDE4C_uc010ebk.3_Missense_Mutation_p.G466R|PDE4C_uc002nii.4_Missense_Mutation_p.G540R|PDE4C_uc002nif.4_Missense_Mutation_p.G341R|PDE4C_uc010ebl.3_Missense_Mutation_p.G286R	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	572					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TCGCGGTCTCCCTGCTGGAAG	0.627000														24			9		0	0	0.000673444	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751701	73751701	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:73751701C>T	uc011dyh.2	+	2	879	c.532C>T	c.(532-534)Cga>Tga	p.R178*	KCNQ5_uc003pgj.4_Nonsense_Mutation_p.R178*|KCNQ5_uc011dyi.2_Nonsense_Mutation_p.R178*|KCNQ5_uc010kat.3_Nonsense_Mutation_p.R178*|KCNQ5_uc003pgk.3_Nonsense_Mutation_p.R178*|KCNQ5_uc011dyj.2_Nonsense_Mutation_p.R178*|KCNQ5_uc011dyk.2_Intron	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	178					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTCATCATTCGAATCTGGTC	0.423000														58			61		0	0	0.000781405	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951000	235951000	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:235951000C>T	uc002vvp.3	+	3	1980	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	SH3BP4_uc010fym.3_Silent_p.F529F|SH3BP4_uc002vvq.3_Silent_p.F529F	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	529					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.F529F(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGCACCAGTTCGTTTTGTCCA	0.592000														9			12		0	0	0.000219431	0	0
TAF4B	6875	broad.mit.edu	37	18	23872342	23872342	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:23872342C>T	uc002kvt.4	+	7	2227	c.1738C>T	c.(1738-1740)Cca>Tca	p.P580S	TAF4B_uc002kvu.4_Missense_Mutation_p.P575S|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	575					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCAGTTTCCTCCAGGTAGATG	0.423000														45			19		0	0	0.000295444	0	0
PCDH15	65217	broad.mit.edu	37	10	55913032	55913032	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:55913032C>T	uc010qhy.1	-	14	2022	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	PCDH15_uc010qhq.2_Missense_Mutation_p.E543K|PCDH15_uc010qhr.2_Missense_Mutation_p.E538K|PCDH15_uc021pqv.1_Missense_Mutation_p.E538K|PCDH15_uc021pqw.1_Missense_Mutation_p.E550K|PCDH15_uc010qht.2_Missense_Mutation_p.E545K|PCDH15_uc021pqx.1_Missense_Mutation_p.E538K|PCDH15_uc001jjv.1_Missense_Mutation_p.E516K|PCDH15_uc021pqy.1_Missense_Mutation_p.E538K|PCDH15_uc021pqz.1_Missense_Mutation_p.E516K|PCDH15_uc010qhv.1_Missense_Mutation_p.E538K|PCDH15_uc010qhw.1_Missense_Mutation_p.E501K|PCDH15_uc010qhx.1_Missense_Mutation_p.E538K|PCDH15_uc010qhz.1_Missense_Mutation_p.E538K|PCDH15_uc010qia.1_Missense_Mutation_p.E516K|PCDH15_uc001jju.1_Missense_Mutation_p.E538K|PCDH15_uc010qib.1_Missense_Mutation_p.E516K|PCDH15_uc001jjw.3_Missense_Mutation_p.E538K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	538	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E543K(3)|p.E538K(2)|p.E543fs*31(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGACCCTTCGTCTGCGTCG	0.458000										HNSCC(58;0.16)				12			4		0	0	0.000602214	0	0
SPATA13	221178	broad.mit.edu	37	13	24823957	24823957	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr13:24823957G>A	uc001upd.2	+	4	2574	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	SPATA13_uc001upe.3_Intron|SPATA13_uc021rhg.1_Missense_Mutation_p.E666K|SPATA13_uc001upg.2_Missense_Mutation_p.E41K|SPATA13_uc010tcy.1_5'Flank|SPATA13_uc010tcz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	41					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCAGACGGAGGAACTGGACAA	0.567000														16			13		0	0	0.000308642	0	0
DPYS	1807	broad.mit.edu	37	8	105456640	105456640	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:105456640C>T	uc003yly.4	-	3	758	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	210					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCTGTTATCCCCAGAGCCAA	0.498000														34			11		0	0	0.00010058	0	0
NCKAP1	10787	broad.mit.edu	37	2	183841668	183841668	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:183841668C>T	uc002upc.3	-	14	1837	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	NCKAP1_uc002upb.3_Missense_Mutation_p.E485K	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	479					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCAAATACTTCCCCATCTTCA	0.264000														11			6		0	0	0.000157383	0	0
SEPSECS	51091	broad.mit.edu	37	4	25125802	25125802	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:25125802G>A	uc003grg.3	-	10	1470	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	SEPSECS_uc003gri.3_Silent_p.F418F|SEPSECS_uc003grh.3_Silent_p.F340F	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	419					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|tRNA binding|transferase activity, transferring selenium-containing groups			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	TAAAGCCTCTGAAAGTATAGC	0.408000														30			7		0	0	0.000157383	0	0
TTLL9	164395	broad.mit.edu	37	20	30496448	30496448	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:30496448C>T	uc010gdx.1	+	4	514	c.261C>T	c.(259-261)ttC>ttT	p.F87F	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_5'Flank	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	87	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGAGAACTTCGACCACACCT	0.592000														9			5		0	0	3.59834e-05	0	0
ABCB1	5243	broad.mit.edu	37	7	87135224	87135224	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:87135224C>T	uc003uiz.2	-	27	4118	c.3625G>A	c.(3625-3627)Gaa>Aaa	p.E1209K	ABCB1_uc011khc.2_Missense_Mutation_p.E1145K	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1209	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTTCACTTTCTGTATCCAGA	0.418000														27			18		0	0	0.000132079	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688696	81688696	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:81688696G>A	uc001szo.2	-	23	3004	c.2843C>T	c.(2842-2844)cCa>cTa	p.P948L	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.P874L|PPFIA2_uc021rbh.1_Missense_Mutation_p.P849L|PPFIA2_uc021rbi.1_Missense_Mutation_p.P948L|PPFIA2_uc021rbj.1_Missense_Mutation_p.P948L|PPFIA2_uc021rbk.1_Missense_Mutation_p.P933L|PPFIA2_uc021rbl.1_Missense_Mutation_p.P948L|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.P515L|PPFIA2_uc021rbf.1_Missense_Mutation_p.P165L	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	874										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCGATGCAGTGGATTGCTGAT	0.493000														11			6		0	0	3.59834e-05	0	0
IL7R	3575	broad.mit.edu	37	5	35873648	35873648	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:35873648G>A	uc003jjs.3	+	4	693	c.604G>A	c.(604-606)Gag>Aag	p.E202K	IL7R_uc011coo.2_Missense_Mutation_p.E202K|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	202	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.E202K(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCAATGTATGAGATTAAAGT	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							34			9		0	0	0.000274275	0	0
MIP	4284	broad.mit.edu	37	12	56847477	56847477	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:56847477G>A	uc001slh.3	-	1	461	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	141					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						TGCAGAGCACGAACTGGAGCG	0.607000														10			6		0	0	3.59834e-05	0	0
OR10G4	390264	broad.mit.edu	37	11	123887086	123887086	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:123887086G>A	uc010sac.2	+	0	805	c.805G>A	c.(805-807)Gga>Aga	p.G269R		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGCCATGGATGGAGTTGTGGC	0.493000														26			20		0	0	0.000175454	0	0
NCAPG2	54892	broad.mit.edu	37	7	158448069	158448069	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:158448069C>A	uc011kwe.1	-	19	2612	c.2467G>T	c.(2467-2469)Ggt>Tgt	p.G823C	NCAPG2_uc010lqu.1_Missense_Mutation_p.G615C|NCAPG2_uc003wnx.1_Missense_Mutation_p.G823C|NCAPG2_uc003wnv.1_Missense_Mutation_p.G823C|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.G324C|NCAPG2_uc011kwd.1_Missense_Mutation_p.G266C	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	823					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CAGTGGAGACCAAAGGCTCGC	0.522000														112			8		0.000274275	0.00308366	0.000274275	1	0
RPL2B	0	broad.mit.edu	37	16	436727	436727	+	Missense_Mutation	SNP	A	C	C	rs35133424		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:436727A>C	uc002cgx.3	+	0	65	c.37A>C	c.(37-39)Aaa>Caa	p.K13Q	LOC100134368_uc002cgw.1_Intron					SubName: Full=Putative uncharacterized protein;																		aaaaaaaaccaaaaaaaaaaa	0.393000														1			3		0	0	0.00024832	0	0
KAT6B	23522	broad.mit.edu	37	10	76784907	76784908	+	Silent	DNP	CC	TT	TT			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:76784907_76784908CC>TT	uc001jwn.1	+	16	4057_4058	c.3564_3565CC>TT	c.(3562-3567)gtcctg>gtTTtg	p.1188_1189VL>VL	KAT6B_uc001jwo.1_Silent_p.896_897VL>VL|KAT6B_uc001jwp.1_Silent_p.1005_1006VL>VL	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1188					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GGAAGCCAGTCCTGAGAAAAGC	0.475000														14			8		0	0	6.4e-05	0	0
MDC1	9656	broad.mit.edu	37	6	30680224	30680224	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:30680224C>T	uc003nrg.4	-	4	1935	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	MDC1_uc003nrf.4_Missense_Mutation_p.V153M|MDC1_uc011dmp.1_Missense_Mutation_p.V371M|MDC1_uc003nrh.1_Missense_Mutation_p.V371M|MDC1_uc003nri.2_Missense_Mutation_p.V499M	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	499	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCTGCTTCCACACTGTCATCA	0.502000								Other conserved DNA damage response genes						36			24		0	0	0.00106085	0	0
STOML2	30968	broad.mit.edu	37	9	35100138	35100138	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:35100138G>A	uc003zwi.3	-	9	1028	c.965C>T	c.(964-966)gCc>gTc	p.A322V	STOML2_uc011lou.2_Missense_Mutation_p.A277V	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.	322						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGGCACTGGGGCTTTGGTGAG	0.542000														22			30		0	0	0.000491102	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798364	185798364	+	Missense_Mutation	SNP	G	A	A	rs145158210		TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:185798364G>A	uc002uph.3	+	2	884	c.290G>A	c.(289-291)cGa>cAa	p.R97Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	97						intracellular	zinc ion binding	p.R97Q(2)|p.R97*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATTTGCTCGAAATGTAGCA	0.368000														21			26		0	0	0.000184323	0	0
CILP2	148113	broad.mit.edu	37	19	19655192	19655192	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:19655192G>A	uc002nmw.4	+	7	1941	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	CILP2_uc002nmv.4_Missense_Mutation_p.R613Q	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	613						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTGGACCCCCGAGACCTCACC	0.697000														31			15		0	0	0.000422831	0	0
SLFN11	91607	broad.mit.edu	37	17	33679391	33679391	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:33679391G>A	uc002hjg.4	-	4	2937	c.2690C>T	c.(2689-2691)cCg>cTg	p.P897L	SLFN11_uc010ctr.3_Missense_Mutation_p.P897L|SLFN11_uc010ctp.3_Missense_Mutation_p.P897L|SLFN11_uc010ctq.3_Missense_Mutation_p.P897L|SLFN11_uc002hjh.4_Missense_Mutation_p.P897L	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	897						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCACCCCACGGAAAAATATA	0.433000														45			13		0	0	0.000566183	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559473	20559473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:20559473C>T	uc002dhj.4	-	8	1219	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	ACSM2B_uc002dhk.4_Missense_Mutation_p.G337R|ACSM2B_uc010bwf.1_Missense_Mutation_p.G337R	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	337					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GACTCCCCTCCAGCGAGGCAG	0.522000														36			23		0	0	0.000720815	0	0
KSR2	283455	broad.mit.edu	37	12	117993065	117993065	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:117993065G>A	uc001two.2	-	8	1395	c.1340C>T	c.(1339-1341)cCg>cTg	p.P447L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	476					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATGTCACACGGAACGGACTC	0.488000														6			5		0	0	3.59834e-05	0	0
TNRC6B	23112	broad.mit.edu	37	22	40681768	40681768	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:40681768C>T	uc011aor.2	+	11	3913	c.3702C>T	c.(3700-3702)tcC>tcT	p.S1234S	TNRC6B_uc003aym.3_Silent_p.S430S|TNRC6B_uc003ayn.4_Silent_p.S1124S|TNRC6B_uc003ayo.3_Silent_p.S981S	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						AGTTTATTTCCCCCCAGGTAA	0.448000														62			44		0	0	0.000781405	0	0
MYOF	26509	broad.mit.edu	37	10	95116542	95116542	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:95116542G>A	uc001kin.3	-	29	3307	c.3184C>T	c.(3184-3186)Cac>Tac	p.H1062Y	MYOF_uc001kio.3_Missense_Mutation_p.H1049Y|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1062					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTTTCCAGTGAAATTTCCAG	0.443000														28			9		0	0	0.000442599	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828117	43828117	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:43828117T>C	uc004ada.2	+	8	1783	c.1373T>C	c.(1372-1374)tTc>tCc	p.F458S	CNTNAP3B_uc004acz.2_Non-coding_Transcript	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	458	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TCTGTATCCTTCTCTGCCAAG	0.453000														20			28		0	0	0.000339439	0	0
DGCR2	9993	broad.mit.edu	37	22	19055627	19055627	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:19055627G>A	uc002zoq.1	-	2	562	c.314C>T	c.(313-315)cCc>cTc	p.P105L	DGCR2_uc021wkx.1_Missense_Mutation_p.P105L|DGCR2_uc021wky.1_Missense_Mutation_p.P64L|DGCR2_uc021wkz.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.P64L|DGCR2_uc002zor.1_5'UTR	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	105					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GAAGCGAACGGGCTGCGCCAC	0.642000														13			6		0	0	0.000274275	0	0
FBLN1	2192	broad.mit.edu	37	22	45929726	45929727	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:45929726_45929727GG>AA	uc010gzz.3	+	7	993_994	c.846_847GG>AA	c.(844-849)cgggac>cgAAac	p.D283N	FBLN1_uc003bgg.1_Missense_Mutation_p.D245N|FBLN1_uc003bgh.3_Missense_Mutation_p.D245N|FBLN1_uc003bgi.1_Missense_Mutation_p.D245N|FBLN1_uc003bgj.1_Missense_Mutation_p.D245N	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	245	EGF-like 3; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGCCAGCGGGACAGCAGCTG	0.569000														58			20		0	0	6.4e-05	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949026	45949026	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:45949026G>A	uc001nbv.1	+	10	1597	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	GYLTL1B_uc001nbw.1_Missense_Mutation_p.G465R|GYLTL1B_uc001nbx.1_Missense_Mutation_p.G496R	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	496					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GTACCGTGAGGGGCCCCTATA	0.607000														30			22		0	0	0.000295444	0	0
COL4A6	1288	broad.mit.edu	37	X	107417781	107417781	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:107417781G>A	uc004enw.4	-	30	3133	c.3030C>T	c.(3028-3030)atC>atT	p.I1010I	COL4A6_uc004env.4_Silent_p.I1009I|COL4A6_uc011msn.2_Silent_p.I1009I|COL4A6_uc010npk.3_Silent_p.I1009I	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1010	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAACTCCTTTGATAATGCCTG	0.547000									Alport syndrome with Diffuse Leiomyomatosis					10			8		0	0	0.000442599	0	0
KRT39	390792	broad.mit.edu	37	17	39122700	39122700	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:39122700G>A	uc002hvo.1	-	0	445	c.409C>T	c.(409-411)Cct>Tct	p.P137S	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	137	Linker 1.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CATAGAACAGGGAGCTCTTTG	0.428000														82			14		0	0	0.000219431	0	0
MDN1	23195	broad.mit.edu	37	6	90363971	90363971	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:90363971C>T	uc003pnn.1	-	92	15689	c.15573G>A	c.(15571-15573)atG>atA	p.M5191I		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5191					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTCTGTGTCCATAAGGGTGT	0.532000														61			60		0	0	0.000781405	0	0
OXCT1	5019	broad.mit.edu	37	5	41842835	41842835	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:41842835C>T	uc003jmn.3	-	5	944	c.613G>A	c.(613-615)Ggg>Agg	p.G205R		NM_000436	NP_000427	P55809	SCOT1_HUMAN	Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA.	205					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GCAAAATCCCCTGTAATTGCT	0.443000														78			44		0	0	0.000781405	0	0
STAB1	23166	broad.mit.edu	37	3	52556956	52556956	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:52556956G>A	uc003dej.3	+	62	6984	c.6910_splice	c.e62+1	p.D2304_splice	STAB1_uc003dek.1_Splice_Site_p.D319_splice|STAB1_uc003del.3_Splice_Site_p.D191_splice	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2304					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCGTGTGCAAGGTGTGTCCAC	0.612000														18			15		0	0	0.000308642	0	0
SEZ6	124925	broad.mit.edu	37	17	27308689	27308689	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:27308689G>A	uc002hdp.2	-	1	618	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.P142S|SEZ6_uc002hdq.1_Missense_Mutation_p.P17S|SEZ6_uc010crz.1_Missense_Mutation_p.P142S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	142	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TCTGACTCCGGACTCCAGGGT	0.652000														9			4		0	0	0.00024832	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837781	93837781	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:93837781G>A	uc001pep.2	+	15	2927	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	924	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGTTGATTATGAATTTGCTCT	0.363000														49			46		0	0	0.000781405	0	0
VWA2	340706	broad.mit.edu	37	10	116045904	116045904	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:116045904G>A	uc001lbl.1	+	10	1525	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	VWA2_uc001lbk.1_Missense_Mutation_p.D402N|VWA2_uc009xyf.1_Missense_Mutation_p.D98N	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	402	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GGAGTACCAGGATGTGCCTGA	0.682000														16			11		0	0	0.00010058	0	0
TANC2	26115	broad.mit.edu	37	17	61498624	61498624	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:61498624G>A	uc002jal.4	+	24	5304	c.5281G>A	c.(5281-5283)Gaa>Aaa	p.E1761K	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.E872K	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1761							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAACCCTAACGAAATCAAACC	0.507000														31			20		0	0	0.000132079	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263496	144263496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:144263496C>T	uc003qjv.3	-	2	1723	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	PLAGL1_uc003qjx.3_Missense_Mutation_p.E153K|PLAGL1_uc003qjy.3_Missense_Mutation_p.E153K|PLAGL1_uc010khl.3_Missense_Mutation_p.E153K|PLAGL1_uc010khm.3_Missense_Mutation_p.E153K|PLAGL1_uc003qjz.3_Missense_Mutation_p.E153K|PLAGL1_uc003qka.3_Missense_Mutation_p.E153K|PLAGL1_uc003qkb.3_Missense_Mutation_p.E101K|PLAGL1_uc003qkc.3_Missense_Mutation_p.E153K|PLAGL1_uc003qkd.3_Missense_Mutation_p.E101K|PLAGL1_uc003qke.3_Missense_Mutation_p.E153K|PLAGL1_uc003qkf.3_Missense_Mutation_p.E153K|PLAGL1_uc003qkg.3_Missense_Mutation_p.E101K|PLAGL1_uc003qkh.3_Missense_Mutation_p.E153K|PLAGL1_uc003qki.3_Missense_Mutation_p.E101K|PLAGL1_uc003qkj.3_Missense_Mutation_p.E153K|PLAGL1_uc003qkk.3_Missense_Mutation_p.E101K|PLAGL1_uc003qkl.3_Missense_Mutation_p.E101K|PLAGL1_uc003qkm.3_Missense_Mutation_p.E153K|PLAGL1_uc010khn.3_Missense_Mutation_p.E153K|PLAGL1_uc003qkn.3_Missense_Mutation_p.E101K|PLAGL1_uc003qko.3_Missense_Mutation_p.E153K|PLAGL1_uc003qkp.3_Missense_Mutation_p.E101K|PLAGL1_uc003qjw.3_Missense_Mutation_p.E101K|PLAGL1_uc021zgj.1_Missense_Mutation_p.E101K	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	153					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		TGCTTCTTTTCCTTGGTTCCG	0.592000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			26		0	0	0.000720815	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219629	134219629	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:134219629C>T	uc001lll.4	+	1	1654	c.1625C>T	c.(1624-1626)tCa>tTa	p.S542L	PWWP2B_uc009ybe.3_Intron	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	542	PWWP.							p.S542*(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TTGTCTATTTCAAAACTCTCC	0.478000														25			9		0	0	0.000442599	0	0
OR1N1	138883	broad.mit.edu	37	9	125289385	125289385	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:125289385T>C	uc004bmn.1	-	0	188	c.188A>G	c.(187-189)aAc>aGc	p.N63S		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AAAAGACAGGTTGGCCAAGAA	0.498000														12			15		0	0	0.000566183	0	0
CLPTM1	1209	broad.mit.edu	37	19	45489774	45489774	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:45489774A>G	uc002pai.3	+	6	788	c.734A>G	c.(733-735)aAc>aGc	p.N245S	CLPTM1_uc010ejv.1_Missense_Mutation_p.N143S|CLPTM1_uc010xxf.2_Missense_Mutation_p.N143S|CLPTM1_uc010xxg.2_Missense_Mutation_p.N231S	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	245					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ATCACCATCAACATCGTGGAC	0.617000														100			47		0	0	0.000781405	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128684	68128684	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:68128684C>T	uc002jiq.3	+	2	692	c.552C>T	c.(550-552)ctC>ctT	p.L184L	KCNJ16_uc002jin.3_Silent_p.L152L|KCNJ16_uc002jio.3_Silent_p.L152L|KCNJ16_uc002jip.3_Silent_p.L152L|KCNJ16_uc021uch.1_Silent_p.L152L	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	152					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGGTGATCCTCCAGTCCATCT	0.468000														38			7		0	0	0.000157383	0	0
TGIF2	60436	broad.mit.edu	37	20	35207364	35207364	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:35207364C>T	uc021wcv.1	+	1	401	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	TGIF2_uc021wcu.1_Silent_p.L63L|TGIF2_uc002xfn.3_Silent_p.L63L|TGIF2_uc021wcw.1_Silent_p.L63L|TGIF2_uc002xfo.3_Silent_p.L63L	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	63						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CCTGTCAGTGCTGCAAGTAAG	0.572000														22			5		0	0	0.000157383	0	0
MARCO	8685	broad.mit.edu	37	2	119752009	119752009	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:119752009G>A	uc002tln.1	+	16	1608	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	MARCO_uc010yyf.1_Silent_p.E414E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	492	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.E492D(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGCACGGAGAGTACCCTGT	0.557000														6			9		0	0	0.000442599	0	0
ADAM21	8747	broad.mit.edu	37	14	70925826	70925826	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:70925826G>A	uc021rvq.1	+	0	1610	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	ADAM21_uc001xmd.3_Missense_Mutation_p.G537E	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	537	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATTCTCAGGGAAACCGTTTT	0.383000														19			5		0	0	3.59834e-05	0	0
KALRN	8997	broad.mit.edu	37	3	124437996	124437996	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:124437996C>T	uc003ehg.3	+	59	8767	c.8640C>T	c.(8638-8640)ttC>ttT	p.F2880F	KALRN_uc003ehk.3_Silent_p.F1183F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2879	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTCCCCCTTCTTGGATGAGA	0.527000														16			13		0	0	0.00010058	0	0
MUC16	94025	broad.mit.edu	37	19	9058623	9058623	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:9058623G>A	uc002mkp.3	-	2	29027	c.28823C>T	c.(28822-28824)cCc>cTc	p.P9608L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9610	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCACCAGAGGGCATCTTGTA	0.527000														8			6		0	0	8.12818e-05	0	0
OR13H1	347468	broad.mit.edu	37	X	130678510	130678510	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:130678510C>T	uc011muw.2	+	0	463	c.463C>T	c.(463-465)Ctc>Ttc	p.L155F	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					ATCACTTGTGCTCACTGCCAT	0.502000														9			28		0	0	0.000339439	0	0
ATAD5	79915	broad.mit.edu	37	17	29162841	29162841	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:29162841C>G	uc002hfs.1	+	1	2085	c.1742C>G	c.(1741-1743)tCt>tGt	p.S581C	ATAD5_uc002hft.1_Missense_Mutation_p.S478C	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	581					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	p.S581S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAGCTGAATCTGAAGCCAGC	0.378000														55			12		0	0	0.000978159	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854245	12854245	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:12854245G>A	uc001auj.2	+	2	572	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	157										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCTCAAGGAAATACCCCA	0.493000														53			42		0	0	0.000781405	0	0
OR5P3	120066	broad.mit.edu	37	11	7847104	7847104	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:7847104C>T	uc010rbg.2	-	0	416	c.416G>A	c.(415-417)gGa>gAa	p.G139E		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATGCAGACTCCAGGGGACAT	0.532000														20			16		0	0	0.000958276	0	0
CD22	933	broad.mit.edu	37	19	35835825	35835825	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:35835825G>A	uc010edt.3	+	9	2213	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q	CD22_uc010edu.3_Missense_Mutation_p.R622Q|CD22_uc010edv.3_Missense_Mutation_p.R710Q|CD22_uc002nzb.4_Missense_Mutation_p.R533Q|CD22_uc010xst.2_Missense_Mutation_p.R538Q|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	710					cell adhesion		protein binding|sugar binding	p.R710Q(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AAGCTCCAGCGACGGTGAGCT	0.642000														28			16		0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179634931	179634931	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:179634931C>T	uc021vsy.1	-	35	8722	c.8497G>A	c.(8497-8499)Gaa>Aaa	p.E2833K	TTN_uc021vsz.1_Missense_Mutation_p.E2787K|TTN_uc021vta.1_Missense_Mutation_p.E2787K|TTN_uc021vtb.1_Missense_Mutation_p.E2787K|TTN_uc002unb.2_Missense_Mutation_p.E2833K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2833							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTAATTTCCACACTCTTA	0.458000														38			43		0	0	0.000781405	0	0
FAM65B	9750	broad.mit.edu	37	6	24874004	24874004	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:24874004G>A	uc003neo.1	-	2	301	c.125C>T	c.(124-126)tCc>tTc	p.S42F	FAM65B_uc011djs.1_Missense_Mutation_p.S71F|FAM65B_uc011dju.2_Missense_Mutation_p.S76F|FAM65B_uc003nep.3_Missense_Mutation_p.S42F|FAM65B_uc011djt.2_Missense_Mutation_p.S42F	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	42					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GAGAGCGGAGGAATTTTCAAT	0.408000														44			12		0	0	0.000151284	0	0
EXOSC6	118460	broad.mit.edu	37	16	70285795	70285795	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:70285795C>T	uc002eym.1	-	0	39	c.9G>A	c.(7-9)ggG>ggA	p.G3G		NM_058219	NP_478126	Q5RKV6	EXOS6_HUMAN	Homo sapiens exosome component 6 (EXOSC6), mRNA.	3					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	RNA binding										GGCGGTGATCCCCAGGCATGG	0.697000											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1			5		0	0	3.59834e-05	0	0
WFIKKN1	117166	broad.mit.edu	37	16	683313	683313	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:683313G>A	uc002cht.1	+	1	1145	c.903G>A	c.(901-903)ccG>ccA	p.P301P	AK128777_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 (WFIKKN1), mRNA.	301	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				AGTGCCTGCCGGATGTGCAGG	0.716000														1			5		0	0	3.59834e-05	0	0
ZNF208	7757	broad.mit.edu	37	19	22157600	22157600	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:22157600G>A	uc021urr.1	-	3	385	c.236C>T	c.(235-237)tCt>tTt	p.S79F	ZNF208_uc002nqo.1_Missense_Mutation_p.S79F	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCAAAATGAGAACATATAAC	0.299000														14			5		0	0	0.000602214	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411699	39411699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:39411699C>T	uc021txh.1	+	0	64	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	Homo sapiens keratin associated protein 9-9 (KRTAP9-9), mRNA.	21						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGGAAGCCCACCACTGTG	0.617000														10			4		0	0	0.00024832	0	0
LIFR	3977	broad.mit.edu	37	5	38530715	38530715	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:38530715G>A	uc010ive.1	-	1	367	c.35C>T	c.(34-36)tCc>tTc	p.S12F	LIFR_uc003jli.2_Missense_Mutation_p.S12F	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	12					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CACCATCCAGGATGGTCGTTT	0.388000			T	PLAG1	salivary adenoma									37			29		0	0	0.000491102	0	0
TTN	7273	broad.mit.edu	37	2	179585787	179585787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:179585787C>T	uc021vsy.1	-	75	19452	c.19227G>A	c.(19225-19227)tgG>tgA	p.W6409*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.W3070*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7336	Ig-like 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTGTATTTCCAACTTTCAT	0.413000														67			14		0	0	0.000308642	0	0
TTC21A	199223	broad.mit.edu	37	3	39162558	39162558	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:39162558C>T	uc003cjc.2	+	8	1172	c.995C>T	c.(994-996)tCg>tTg	p.S332L	TTC21A_uc011ayx.1_Missense_Mutation_p.S283L|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	332							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCACCCCCTCGTATGTCCAT	0.512000														14			10		0	0	0.000673444	0	0
LRIG3	121227	broad.mit.edu	37	12	59266385	59266385	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:59266385G>A	uc001sqr.3	-	18	3575	c.3329C>T	c.(3328-3330)cCa>cTa	p.P1110L	LRIG3_uc009zqh.3_Missense_Mutation_p.P1050L|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	1110						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGAAAATTTGGAGTCCTGTA	0.358000			T	ROS1	NSCLC									23			29		0	0	0.000878237	0	0
FCHO1	23149	broad.mit.edu	37	19	17881371	17881371	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:17881371G>A	uc002nhg.3	+	7	753	c.474G>A	c.(472-474)caG>caA	p.Q158Q	FCHO1_uc010ebb.2_Silent_p.Q158Q|FCHO1_uc002nhh.2_Silent_p.Q158Q|FCHO1_uc010xpw.1_Silent_p.Q108Q|FCHO1_uc010ebc.1_Silent_p.Q165Q	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	158										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GTACCAGCCAGAAGGAGATGG	0.627000														13			12		0	0	0.000219431	0	0
MCHR2	84539	broad.mit.edu	37	6	100395747	100395747	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:100395747G>A	uc003pqh.1	-	2	598	c.283C>T	c.(283-285)Cga>Tga	p.R95*	MCHR2_uc003pqi.1_Nonsense_Mutation_p.R95*	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	95						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R95*(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCTCCCCCTCGGGCCCATTGG	0.488000														23			6		0	0	3.59834e-05	0	0
MYLK	4638	broad.mit.edu	37	3	123452564	123452564	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:123452564C>T	uc003ego.3	-	9	1561	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	MYLK_uc011bjw.2_Missense_Mutation_p.E427K|MYLK_uc003egp.3_Missense_Mutation_p.E427K|MYLK_uc003egq.3_Missense_Mutation_p.E427K|MYLK_uc003egr.3_Missense_Mutation_p.E427K|MYLK_uc003egs.3_Missense_Mutation_p.E251K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	427	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.K426N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTTTGATTTTCCTTGACCTCC	0.507000														58			12		0	0	0.000219431	0	0
C5orf28	64417	broad.mit.edu	37	5	43446579	43446579	+	Silent	SNP	A	G	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:43446579A>G	uc003jny.3	-	2	536	c.393T>C	c.(391-393)acT>acC	p.T131T	C5orf28_uc003jnv.4_Silent_p.T131T|C5orf28_uc003jnx.3_Silent_p.T131T	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	Homo sapiens chromosome 5 open reading frame 28 (C5orf28), mRNA.	131						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAAGGTGCATAGTAAATTTCA	0.448000														39			18		0	0	0.000175454	0	0
AQPEP	206338	broad.mit.edu	37	5	115319054	115319054	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:115319054C>T	uc003kro.3	+	1	930	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	AQPEP_uc003krp.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	256					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TGAGCCAGCTCTGAAGGCAAC	0.398000														14			20		0	0	0.000132079	0	0
OR5B12	390191	broad.mit.edu	37	11	58207358	58207358	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:58207358G>A	uc010rkh.2	-	0	289	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F89L(2)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TATATAATATGAATTTGTCTC	0.453000														12			5		0	0	3.59834e-05	0	0
HEPN1	641654	broad.mit.edu	37	11	124789780	124789780	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:124789780C>T	uc001qbj.1	+	0	635	c.134C>T	c.(133-135)tCt>tTt	p.S45F	HEPACAM_uc009zbj.3_3'UTR|HEPACAM_uc001qbk.3_3'UTR	NM_001037558	NP_001032647	Q6WQI6	HEPN1_HUMAN	Homo sapiens hepatocellular carcinoma, down-regulated 1 (HEPN1), mRNA.	45						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GCCTCCTTCTCTTTCAGCTTT	0.502000														11			15		0	0	0.000308642	0	0
SLC18A2	6571	broad.mit.edu	37	10	119027222	119027222	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:119027222G>A	uc001ldd.2	+	12	1324	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	SLC18A2_uc009xyy.2_Silent_p.P184P	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	387					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCATAGCTCCGAACTTTGGAG	0.383000														22			9		0	0	0.00010058	0	0
ALDH2	217	broad.mit.edu	37	12	112221087	112221087	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:112221087C>T	uc001tst.3	+	2	441	c.345C>T	c.(343-345)gaC>gaT	p.D115D	ALDH2_uc010syi.2_Intron	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	115					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.D115N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	TCGAGCGGGACCGGACCTACC	0.662000			T	HMGA2	leiomyoma									23			5		0	0	0.000602214	0	0
HAVCR1	26762	broad.mit.edu	37	5	156456847	156456847	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:156456847G>A	uc010jij.1	-	8	1177	c.992C>T	c.(991-993)tCa>tTa	p.S331L	HAVCR1_uc011ddl.1_Missense_Mutation_p.H151Y|HAVCR1_uc003lwi.2_Missense_Mutation_p.S331L|HAVCR1_uc021ygj.1_Missense_Mutation_p.S331L	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	326					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTGCTAAATGAAACACTGTA	0.353000														126			84		0	0	0.000781405	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445685	10445685	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:10445685G>A	uc003gmn.3	-	2	2755	c.2268C>T	c.(2266-2268)acC>acT	p.T756T	ZNF518B_uc021xme.1_Silent_p.T756T	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	756					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTCTGCTTTTGGTTTTCCTAT	0.453000														37			17		0	0	0.00074312	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64699325	64699325	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:64699325C>T	uc001obz.3	+	9	1394	c.1101C>T	c.(1099-1101)tcC>tcT	p.S367S	PPP2R5B_uc001oby.3_Silent_p.S367S	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	367					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GCTGTGTTTCCAGCCCCCATT	0.552000														22			15		0	0	0.000175454	0	0
ODZ1	10178	broad.mit.edu	37	X	123587288	123587288	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:123587288G>A	uc010nqy.3	-	22	4067	c.4003C>T	c.(4003-4005)Cgc>Tgc	p.R1335C	ODZ1_uc011muj.2_Missense_Mutation_p.R1334C|ODZ1_uc004euj.3_Missense_Mutation_p.R1328C	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1328					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCAATTTTGCGAATCATAGTC	0.423000														8			31		0	0	0.000339439	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39382983	39382983	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:39382983C>T	uc002hwf.3	+	0	84	c.77C>T	c.(76-78)cCc>cTc	p.P26L		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	Homo sapiens keratin associated protein 9-2 (KRTAP9-2), mRNA.	26	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding	p.P26H(2)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGGAAGCCCACCACTGTG	0.642000														31			4		0	0	0.00024832	0	0
CELSR3	1951	broad.mit.edu	37	3	48697976	48697976	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:48697976G>A	uc003cuf.1	-	2	2302	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S	CELSR3_uc003cul.3_Missense_Mutation_p.P698S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	698	Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATCACAAAAGGAGTATCAGGT	0.542000														13			9		0	0	0.000274275	0	0
RORB	6096	broad.mit.edu	37	9	77300508	77300508	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:77300508C>T	uc004aji.3	+	9	1436	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S	RORB_uc004ajh.3_Missense_Mutation_p.P452S	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	463	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCTTTAATCCTGACTGTGC	0.438000														16			22		0	0	0.000878237	0	0
ZNF76	7629	broad.mit.edu	37	6	35258483	35258483	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:35258483C>T	uc003oki.1	+	6	820	c.615C>T	c.(613-615)gcC>gcT	p.A205A	ZNF76_uc011dsy.1_Silent_p.A205A|ZNF76_uc011dsz.1_Silent_p.A205A|ZNF76_uc003okj.1_Silent_p.A205A	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	205					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTGGAAAGGCCTTTGCCACAG	0.547000														32			11		0	0	0.000151284	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887095	62887095	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:62887095G>A	uc003peg.2	-	1	461	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	72	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AGTACCTTTGGATACTGCTTG	0.289000														26			9		0	0	0.00010058	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107511	107511	+	RNA	SNP	A	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrGL000211.1:107511A>T	uc003boa.3	+	4		c.1051A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATGCAAATTATTTTGAAATA	0.279000														6			3		0	0	6.4e-05	0	0
FBN3	84467	broad.mit.edu	37	19	8130862	8130862	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:8130862C>T	uc002mjf.3	-	62	8388	c.8371G>A	c.(8371-8373)Ggg>Agg	p.G2791R	FBN3_uc002mje.3_Missense_Mutation_p.G587R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2791						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTGGCTGCCCCTCTGGCTGG	0.687000														17			9		0	0	0.000673444	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44386575	44386575	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:44386575C>T	uc001ckb.3	+	11	1397	c.1220C>T	c.(1219-1221)aCc>aTc	p.T407I	ST3GAL3_uc001cjz.3_Missense_Mutation_p.T353I|ST3GAL3_uc001cka.3_Intron|ST3GAL3_uc001ckc.3_Missense_Mutation_p.T338I|ST3GAL3_uc001ckd.3_Missense_Mutation_p.T392I|ST3GAL3_uc001cke.3_Missense_Mutation_p.T322I|ST3GAL3_uc001ckf.3_Missense_Mutation_p.T376I|ST3GAL3_uc001ckg.3_Intron|ST3GAL3_uc001ckh.3_Intron|ST3GAL3_uc001cki.3_Intron|ST3GAL3_uc009vwx.3_Intron|ST3GAL3_uc009vwz.3_Missense_Mutation_p.T112I|ST3GAL3_uc001ckm.3_Intron|ST3GAL3_uc001ckn.3_Intron|ST3GAL3_uc001cko.3_Intron|ST3GAL3_uc001ckp.3_Intron|ST3GAL3_uc009vxa.3_Missense_Mutation_p.T125I|ST3GAL3_uc001ckq.3_Intron|ST3GAL3_uc001ckr.3_Intron|ST3GAL3_uc009vxb.3_Intron|ST3GAL3_uc009vwv.3_Missense_Mutation_p.T308I|ST3GAL3_uc001ckj.3_Non-coding_Transcript|ST3GAL3_uc009vww.3_Non-coding_Transcript|ST3GAL3_uc001ckk.3_Missense_Mutation_p.T307I|ST3GAL3_uc009vwy.3_Missense_Mutation_p.T244I|ST3GAL3_uc001ckl.3_Intron	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	338					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TACTATGAGACCGTTCGCATG	0.577000														3			4		0	0	0.00024832	0	0
XIST	7503	broad.mit.edu	37	X	73063782	73063782	+	RNA	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:73063782C>T	uc004ebm.1	-	0		c.8807G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TGTTGATAGTCCACCAGAAGG	0.403000														3			11		0	0	0.000673444	0	0
CYB561D1	284613	broad.mit.edu	37	1	110038845	110038845	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:110038845C>T	uc010ovo.2	+	2	781	c.720C>T	c.(718-720)tcC>tcT	p.S240S	CYB561D1_uc010ovl.2_Silent_p.S161S|CYB561D1_uc010ovm.2_Silent_p.S160S|CYB561D1_uc001dxu.3_3'UTR|CYB561D1_uc001dxw.3_3'UTR|CYB561D1_uc010ovn.2_Silent_p.S218S|CYB561D1_uc009wfd.3_Silent_p.S167S|CYB561D1_uc010ovp.2_Silent_p.S152S	NM_001134400	NP_001127872	Q8N8Q1	C56D1_HUMAN	Homo sapiens cytochrome b-561 domain containing 1 (CYB561D1), transcript variant 1, mRNA.	218					electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		ACCAGATTTCCAGATCCTACT	0.527000														32			15		0	0	0.000308642	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097045	69097045	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:69097045C>T	uc003hdw.4	-	6	698	c.562G>A	c.(562-564)Gga>Aga	p.G188R		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	188	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.G188G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GAGCTTTTTCCATTCACAATT	0.488000														36			9		0	0	0.000442599	0	0
BAI3	577	broad.mit.edu	37	6	70049369	70049369	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:70049369C>T	uc010kak.3	+	24	3708	c.3432C>T	c.(3430-3432)gtC>gtT	p.V1144V	BAI3_uc003pev.4_Silent_p.V1144V|BAI3_uc011dxx.2_Silent_p.V350V	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1144					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGTTATAGTCATGGTCCACT	0.403000														49			20		0	0	0.000175454	0	0
MID1	4281	broad.mit.edu	37	X	10442884	10442884	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:10442884T>C	uc004cta.4	-	0	318	c.188A>G	c.(187-189)aAg>aGg	p.K63R	MID1_uc004ctd.4_Intron|MID1_uc004cte.4_Intron|MID1_uc004ctg.4_Intron|MID1_uc004cth.4_Intron|MID1_uc004ctk.4_Intron|MID1_uc004ctj.4_Intron|MID1_uc004cti.4_Intron|MID1_uc011mie.1_Intron|MID1_uc004ctm.2_Intron|MID1_uc004ctn.2_Intron|MID1_uc004cto.2_Intron|MID1_uc010ndw.1_Intron|MID1_uc004cts.1_Intron|MID1_uc004csz.4_Intron|MID1_uc004ctb.4_Intron|MID1_uc004ctc.4_Intron|MID1_uc004ctl.2_Missense_Mutation_p.K63R|MID1_uc004ctp.1_Intron|MID1_uc004ctq.1_Intron|MID1_uc004ctr.1_Intron|MID1_uc010ndu.1_Intron|MID1_uc010ndv.1_Intron	NM_033289	NP_150631	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 5, mRNA.	0					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TAAATATCTCTTAAAAAGTGC	0.299000														3			6		0	0	3.59834e-05	0	0
E4F1	1877	broad.mit.edu	37	16	2283184	2283184	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:2283184G>A	uc002cpm.3	+	7	1104	c.1056_splice	c.e7+1	p.E352_splice	E4F1_uc010bsi.3_Splice_Site_p.E352_splice|E4F1_uc010bsj.3_Splice_Site_p.E352_splice	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	352					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TGGCCCCAGAGGTGGGGGCGA	0.657000														21			6		0	0	8.12818e-05	0	0
AK7	122481	broad.mit.edu	37	14	96922720	96922720	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:96922720G>A	uc001yfn.2	+	10	1179	c.1135G>A	c.(1135-1137)Gga>Aga	p.G379R		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	379	Adenylate kinase.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCCTGCTGTGGGAAAATCCAG	0.438000														8			13		0	0	0.000308642	0	0
HOXA3	3200	broad.mit.edu	37	7	27150085	27150085	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:27150085C>T	uc011jzl.2	-	1	375	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	HOXA3_uc003syk.3_Missense_Mutation_p.G59R	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	59					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGGTGGCCCCCGGCGCTGGAG	0.701000														10			4		0	0	0.00024832	0	0
RIMS1	22999	broad.mit.edu	37	6	72678710	72678710	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:72678710G>A	uc003pga.3	+	1	266	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	63	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACATGGCGAAGCCTGCTGCCT	0.448000														34			5		0	0	8.12818e-05	0	0
DMBT1	1755	broad.mit.edu	37	10	124358388	124358388	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:124358388G>A	uc001lgk.1	+	25	3161	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DMBT1_uc001lgl.1_Missense_Mutation_p.D1009N|DMBT1_uc001lgm.1_Missense_Mutation_p.D520N|DMBT1_uc021qaf.1_Missense_Mutation_p.D1019N|DMBT1_uc021qag.1_Missense_Mutation_p.D1009N|DMBT1_uc021qah.1_Missense_Mutation_p.D520N|DMBT1_uc009xzz.1_Missense_Mutation_p.D1019N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1019	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D1019N(4)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCGTGTGCGATGACAGCTG	0.602000														61			28		0	0	0.000409698	0	0
AKAP11	11215	broad.mit.edu	37	13	42876436	42876436	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr13:42876436T>C	uc001uys.2	+	7	3729	c.3554T>C	c.(3553-3555)gTg>gCg	p.V1185A		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1185					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTCCCAGAAGTGGATGTGAAG	0.413000														13			24		0	0	0.00047179	0	0
NSUN7	79730	broad.mit.edu	37	4	40763240	40763240	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:40763240G>A	uc003gvj.4	+	3	905	c.410G>A	c.(409-411)aGa>aAa	p.R137K	NSUN7_uc003gvh.2_Missense_Mutation_p.R137K|NSUN7_uc003gvi.4_Missense_Mutation_p.R137K	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.									p.D136fs*22(1)		NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TTCCAAGATAGAAAATTTCAA	0.313000														73			53		0	0	0.000781405	0	0
MORC2	22880	broad.mit.edu	37	22	31338215	31338215	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:31338215G>A	uc003aje.1	-	7	1648	c.284C>T	c.(283-285)cCt>cTt	p.P95L		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	157							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GTCTGTGACAGGTTCCCGGGT	0.502000														49			24		0	0	0.00106085	0	0
FBXO15	201456	broad.mit.edu	37	18	71749176	71749176	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:71749176C>T	uc002llf.2	-	8	1329	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.D341N	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	341										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATACAGCCATCAAAAATATCA	0.284000														30			18		0	0	0.000295444	0	0
MCM7	4176	broad.mit.edu	37	7	99697359	99697359	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:99697359C>T	uc003usw.1	-	2	639	c.129G>A	c.(127-129)cgG>cgA	p.R43R	MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.4_5'Flank|AP4M1_uc003utd.3_5'Flank|AP4M1_uc011kjh.2_5'Flank|AP4M1_uc003ute.4_5'Flank|AP4M1_uc003utf.4_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	43					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCACCTGTTCCCGATGAGCCA	0.532000														24			10		0	0	0.000978159	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025032	176025033	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:176025032_176025033GG>AA	uc003meo.1	-	1	1978_1979	c.1803_1804CC>TT	c.(1801-1806)atccca>atTTca	p.P602S	GPRIN1_uc021yif.1_Missense_Mutation_p.P602S	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	602						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCCCTCTGGGATAGCTTCTG	0.569000														15			16		0	0	6.4e-05	0	0
HERC3	8916	broad.mit.edu	37	4	89579585	89579585	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:89579585C>T	uc003hrw.1	+	9	1255	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	HERC3_uc011cdn.1_Silent_p.I245I|HERC3_uc011cdo.1_5'UTR	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	363					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AATATCATATCGTTAAGCAGA	0.338000														42			9		0	0	0.00010058	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751136	62751136	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:62751136C>T	uc001nwk.3	-	2	834	c.501G>A	c.(499-501)ttG>ttA	p.L167L	SLC22A6_uc001nwl.3_Silent_p.L167L|SLC22A6_uc001nwj.3_Silent_p.L167L|SLC22A6_uc001nwm.3_Silent_p.L167L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	167					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCAGGTAGTTCAAGATGAGTA	0.637000														14			6		0	0	0.000157383	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034594	52034594	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:52034594C>T	uc002pwy.3	-	1	455	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.E83K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.E47K|SIGLEC6_uc010ydc.2_Missense_Mutation_p.E83K|SIGLEC6_uc002pxa.3_Missense_Mutation_p.E83K|SIGLEC6_uc010eoz.2_Missense_Mutation_p.E83K|SIGLEC6_uc010epa.2_Missense_Mutation_p.E72K|SIGLEC6_uc010epb.2_Missense_Mutation_p.E36K	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	83	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACTTCTTCGTCTGGGTCG	0.582000														23			12		0	0	0.000978159	0	0
KIF25	3834	broad.mit.edu	37	6	168439243	168439243	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:168439243G>A	uc003qwk.1	+	4	590	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	KIF25_uc003qwl.1_Missense_Mutation_p.E110K	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	110	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCTCATTTTGGAAAATACCTC	0.438000														19			6		0	0	0.000157383	0	0
HOXA2	3199	broad.mit.edu	37	7	27140752	27140753	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:27140752_27140753CC>TT	uc003syh.3	-	1	998_999	c.723_724GG>AA	c.(721-726)ggggcc>ggAAcc	p.A242T	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	242						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TCCAGAAGGGCCCCAGAGACGC	0.525000														17			15		0	0	6.4e-05	0	0
CDR1	1038	broad.mit.edu	37	X	139865886	139865886	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:139865886C>T	uc004fbg.1	-	0	838	c.646G>A	c.(646-648)Gga>Aga	p.G216R	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	216										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCAGGTCTTCCAGTCAATCCA	0.438000														11			21		0	0	0.000375601	0	0
TGFA	7039	broad.mit.edu	37	2	70680389	70680389	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:70680389G>A	uc002sgs.4	-	4	684	c.436C>T	c.(436-438)Ctc>Ttc	p.L146F	TGFA_uc010fdq.3_Missense_Mutation_p.L152F|TGFA_uc010fdr.3_Missense_Mutation_p.L151F|TGFA_uc002sgt.4_Missense_Mutation_p.L145F|TGFA_uc002sgu.3_Missense_Mutation_p.L145F|TGFA_uc002sgv.3_Missense_Mutation_p.L146F|TGFA_uc002sgw.3_Missense_Mutation_p.L145F|Mir_548_uc021vjb.1_5'Flank	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	146					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	MAP kinase kinase activity|epidermal growth factor receptor binding|growth factor activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CCCTTCAGGAGGGCGCTGGGC	0.587000														30			13		0	0	0.000566183	0	0
XIRP2	129446	broad.mit.edu	37	2	168107877	168107877	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:168107877C>T	uc002udx.3	+	8	10064	c.9975C>T	c.(9973-9975)ttC>ttT	p.F3325F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F3150F|XIRP2_uc010fpq.3_Silent_p.F3103F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3150					actin cytoskeleton organization	cell junction	actin binding	p.F3325V(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAAATTTCGTGAATGACC	0.448000														21			16		0	0	0.000422831	0	0
F2RL2	2151	broad.mit.edu	37	5	75913780	75913780	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:75913780G>C	uc003kem.3	-	1	937	c.752C>G	c.(751-753)aCt>aGt	p.T251S	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.T229S	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	251					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GGACTCGCAAGTGTTGTGAAC	0.413000														32			8		0	0	0.000157383	0	0
AXIN1	8312	broad.mit.edu	37	16	343690	343690	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:343690G>A	uc002cgp.2	-	7	2373	c.1984C>T	c.(1984-1986)Cat>Tat	p.H662Y	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.H662Y	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	662	Interaction with PPP2CA.|Interaction with RNF111.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.P661L(2)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GAGTTCTCATGGGGCTGTGGC	0.632000														24			29		0	0	0.000227799	0	0
DAB1	1600	broad.mit.edu	37	1	57491659	57491659	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:57491659G>C	uc009vzx.1	-	9	1101	c.781C>G	c.(781-783)Ccc>Gcc	p.P261A	DAB1_uc001cyt.1_Missense_Mutation_p.P259A|DAB1_uc001cyq.1_Missense_Mutation_p.P259A|DAB1_uc001cyr.1_Missense_Mutation_p.P175A|DAB1_uc009vzw.1_Missense_Mutation_p.P243A|DAB1_uc001cys.1_Missense_Mutation_p.P261A	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	294					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTACGGGGGGAGAGGTTATA	0.463000														47			15		0	0	0.000308642	0	0
KYNU	8942	broad.mit.edu	37	2	143676226	143676226	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:143676226G>A	uc010fnm.3	+	3	434	c.218G>A	c.(217-219)gGa>gAa	p.G73E	KYNU_uc002tvk.3_Missense_Mutation_p.G73E|KYNU_uc002tvl.3_Missense_Mutation_p.G73E	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	73					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TATTTCTTGGGAAATTCTCTT	0.279000														20			18		0	0	0.000566183	0	0
QSOX2	169714	broad.mit.edu	37	9	139113687	139113687	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:139113687G>A	uc010nbi.2	-	5	814	c.776C>T	c.(775-777)tCg>tTg	p.S259L		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	259					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAGGTAACACGAAGGGACTGA	0.537000														9			17		0	0	0.00074312	0	0
TCRA	0	broad.mit.edu	37	14	22592173	22592173	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:22592173G>A	uc001wdd.2	+	1	405	c.258G>A	c.(256-258)aaG>aaA	p.K86K	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Silent_p.K86K|TCRA_uc001wde.1_Silent_p.K60K|TCRA_uc010aji.1_Silent_p.K86K					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		AAGACAGAAAGTCCAGCACCT	0.498000														4			9		0	0	0.000274275	0	0
ATP2A2	488	broad.mit.edu	37	12	110760812	110760812	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:110760812C>T	uc001tqk.4	+	5	1042	c.479C>T	c.(478-480)cCt>cTt	p.P160L	ATP2A2_uc001tql.4_Missense_Mutation_p.P160L|ATP2A2_uc021rdt.1_Intron	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	160			P -> L (in DD).		ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GACAAAGTTCCTGCTGATATA	0.318000														43			27		0	0	0.000227799	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955354	102955354	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:102955354G>A	uc002tbu.1	+	2	390	c.119G>A	c.(118-120)gGa>gAa	p.G40E	IL1RL1_uc010ywa.2_Intron|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.G40E	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	40	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTAGACAAGGAAAACCTAGT	0.383000														55			17		0	0	0.00074312	0	0
AARSD1	80755	broad.mit.edu	37	17	41131281	41131281	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:41131281G>A	uc010whg.2	-	3	669	c.323C>T	c.(322-324)tCc>tTc	p.S108F	AARSD1_uc002icd.3_Missense_Mutation_p.S47F|AARSD1_uc002ich.3_Missense_Mutation_p.S70F|AARSD1_uc010whh.2_Intron|RUNDC1_uc021txw.1_5'Flank|RUNDC1_uc002ici.1_5'Flank	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	0					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTTATCCTGGGAGTCCTGCCA	0.512000														40			12		0	0	0.000978159	0	0
FAT4	79633	broad.mit.edu	37	4	126328195	126328195	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:126328195C>T	uc003ifj.4	+	2	5468	c.5468C>T	c.(5467-5469)tCg>tTg	p.S1823L	FAT4_uc011cgp.2_Missense_Mutation_p.S121L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1823	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S1822F(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCAGTCCTCGGATATGAGA	0.473000														39			9		0	0	0.000442599	0	0
FRMD8	83786	broad.mit.edu	37	11	65161522	65161522	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:65161522C>T	uc001odu.4	+	4	558	c.366C>T	c.(364-366)ttC>ttT	p.F122F	FRMD8_uc009yqj.3_Silent_p.F66F|FRMD8_uc010rof.2_Silent_p.F88F	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	Homo sapiens FERM domain containing 8 (FRMD8), mRNA.	122	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ATGAGCCTTTCCTGCAGTTCC	0.672000														9			5		0	0	0.000602214	0	0
ATP10D	57205	broad.mit.edu	37	4	47548647	47548647	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:47548647G>A	uc003gxk.1	+	9	1567	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.R453K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	468					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACAGCCAGGAGGTTGGAGTCC	0.458000														42			9		0	0	0.000673444	0	0
KCNK13	56659	broad.mit.edu	37	14	90651018	90651018	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:90651018C>T	uc001xye.1	+	1	1340	c.898C>T	c.(898-900)Ccg>Tcg	p.P300S		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	300						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGGGTGCTGCCCGCAATGCCA	0.552000														11			9		0	0	0.000673444	0	0
CCDC61	729440	broad.mit.edu	37	19	46509959	46509959	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:46509959C>T	uc002pdw.3	+	4	545	c.545C>T	c.(544-546)tCc>tTc	p.S182F	CCDC61_uc021uwd.1_Missense_Mutation_p.S125F	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CTCATCTACTCCGTGGAGTTT	0.667000														23			23		0	0	0.00047179	0	0
LMOD2	442721	broad.mit.edu	37	7	123302492	123302492	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:123302492G>A	uc003vky.2	+	1	1009	c.852G>A	c.(850-852)ggG>ggA	p.G284G		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	284						cytoskeleton	actin binding|tropomyosin binding										CGGGAAAGGGGATCCTGGCCA	0.537000														15			41		0	0	0.000589545	0	0
DNAH3	55567	broad.mit.edu	37	16	21080788	21080788	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:21080788C>T	uc010vbe.2	-	22	3329	c.3329G>A	c.(3328-3330)gGg>gAg	p.G1110E		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1110	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAATTTCCTCCCCTCTTCTGG	0.428000														31			17		0	0	0.000566183	0	0
DDX58	23586	broad.mit.edu	37	9	32500834	32500834	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:32500834G>A	uc003zra.3	-	1	368	c.210C>T	c.(208-210)ttC>ttT	p.F70F	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.3_5'UTR	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	70	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AAAAGCCACGGAACCAGCCTT	0.443000														20			30		0	0	0.000227799	0	0
L1TD1	54596	broad.mit.edu	37	1	62675689	62675689	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:62675689G>A	uc021ooc.1	+	4	1678	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	L1TD1_uc001dae.4_Missense_Mutation_p.E415K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	415	Glu-rich.							p.E415E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						agggctggaggaggaagaaga	0.562000														10			16		0	0	0.000422831	0	0
ZFP41	286128	broad.mit.edu	37	8	144332304	144332304	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:144332304G>A	uc003yxw.3	+	1	649	c.291G>A	c.(289-291)aaG>aaA	p.K97K	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Silent_p.K97K	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	97					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGATCTTTAAGCACAAGACAG	0.527000														22			29		0	0	0.00106085	0	0
PSG5	5673	broad.mit.edu	37	19	43679501	43679501	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:43679501C>T	uc002ovu.3	-	3	961	c.830G>A	c.(829-831)gGg>gAg	p.G277E	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G277E	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	277	Ig-like C2-type 2.				female pregnancy	extracellular region		p.G277G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTGAAACTTCCCATTAATTGT	0.438000														145			34		0	0	0.00058488	0	0
MYO1G	64005	broad.mit.edu	37	7	45005409	45005409	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:45005409G>A	uc003tmh.2	-	16	2352	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	MYO1G_uc003tmg.2_Silent_p.I498I|MYO1G_uc010kym.2_Silent_p.I621I	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	736	IQ.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGATGGTGTAGATAGCCCTCA	0.652000														18			10		0	0	0.000978159	0	0
TM6SF1	53346	broad.mit.edu	37	15	83791518	83791518	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr15:83791518G>A	uc002bjp.3	+	5	600	c.491G>A	c.(490-492)gGa>gAa	p.G164E	TM6SF1_uc010bmq.3_Missense_Mutation_p.G164E|TM6SF1_uc002bjq.3_Intron|TM6SF1_uc010bmr.3_Intron|TM6SF1_uc002bjr.3_Missense_Mutation_p.G16E	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	164						integral to membrane		p.Y163*(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GGGAAGTATGGAACACGAATT	0.353000														18			22		0	0	0.000586117	0	0
STEAP2	261729	broad.mit.edu	37	7	89861715	89861715	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:89861715G>A	uc010len.3	+	5	1756	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	STEAP2_uc003uka.3_Missense_Mutation_p.R417Q|STEAP2_uc003ujz.3_Missense_Mutation_p.R417Q|STEAP2_uc003ukc.3_Intron|STEAP2_uc003ukb.3_Missense_Mutation_p.R417Q|STEAP2_uc003ukd.3_Missense_Mutation_p.R417Q	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	417					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GGATGGAAACGAGCTTTTGAG	0.368000														16			9		0	0	0.000274275	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646597	4646597	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:4646597G>A	uc002fyu.2	+	5	1175	c.1145_splice	c.e5-1	p.E382_splice	ZMYND15_uc002fyv.2_Splice_Site_p.E382_splice|ZMYND15_uc002fyt.2_Splice_Site_p.E382_splice	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	382							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCCTTCTCCAGAGGTGACCAG	0.542000														32			24		0	0	0.00106085	0	0
FAM170A	340069	broad.mit.edu	37	5	118970376	118970376	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:118970376G>A	uc003ksm.2	+	2	1143	c.933G>A	c.(931-933)agG>agA	p.R311R	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Silent_p.R311R|FAM170A_uc003kso.3_Silent_p.R264R	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	311						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TTGGCCTGAGGAGATCCTGGA	0.537000														35			22		0	0	0.000720815	0	0
AKD1	221264	broad.mit.edu	37	6	109850220	109850220	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:109850220C>T	uc003ptn.2	-	28	3704	c.3627G>A	c.(3625-3627)agG>agA	p.R1209R	AKD1_uc011eat.1_Silent_p.R288R	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1209					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TTACCTCCCTCCTTTTTTTAT	0.378000														25			6		0	0	8.12818e-05	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634946	6634947	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:6634946_6634947GG>AA	uc001ant.3	+	2	850_851	c.754_755GG>AA	c.(754-756)ggc>AAc	p.G252N	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Missense_Mutation_p.G174N	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	252					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGCCCAGGTGGGCGATGAGAGG	0.614000														14			7		0	0	6.4e-05	0	0
ZNF451	26036	broad.mit.edu	37	6	57012296	57012296	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:57012296C>T	uc003pdm.1	+	9	1637	c.1413C>T	c.(1411-1413)acC>acT	p.T471T	ZNF451_uc003pdl.3_Silent_p.T471T|ZNF451_uc003pdn.1_Silent_p.T471T|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.T471T	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.K470N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TAGTTAAAACCTGGTTCTGTG	0.383000														24			12		0	0	0.00010058	0	0
EFNA3	1944	broad.mit.edu	37	1	155041374	155041374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:155041374C>T	uc001fhd.3	+	3	602	c.515C>T	c.(514-516)aCa>aTa	p.T172I	EFNA3_uc010pew.2_Intron|EFNA3_uc001fhc.3_Intron|EFNA3_uc001fhe.3_Intron	NM_005227	NP_005218	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A4 (EFNA4), transcript variant 1, mRNA.	68					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGAGTGGCACATCAGGGTGG	0.577000														9			4		0	0	0.00024832	0	0
KLHL4	56062	broad.mit.edu	37	X	86880675	86880675	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:86880675G>A	uc004efa.2	+	5	1385	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	KLHL4_uc004efb.2_Missense_Mutation_p.M401I	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	401						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.M401I(4)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGCTCCTGATGGAAGCTATGA	0.433000														4			15		0	0	0.000422831	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629423	1629423	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:1629423C>T	uc001ltw.1	-	0	271	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	65	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCACAGACCCCCTTGGAGCCC	0.672000														34			15		0	0	0.000422831	0	0
ALB	213	broad.mit.edu	37	4	74279343	74279343	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:74279343C>T	uc003hgs.4	+	7	1123	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	ALB_uc011cbe.2_Silent_p.F29F|ALB_uc003hgw.4_Silent_p.F158F|ALB_uc011cbf.2_Silent_p.F240F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	350	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGGATGTCTTCCTGGGCATGT	0.398000														33			9		0	0	0.000274275	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366747	7366747	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:7366747C>T	uc002ghc.4	-	3	1804	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K	ZBTB4_uc002ghd.4_Silent_p.K518K	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	518	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ATTCTCGTTTCTTGGGTGGCC	0.667000														1			4		0	0	0.00024832	0	0
CHML	1122	broad.mit.edu	37	1	241797475	241797475	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:241797475G>A	uc001hzd.3	-	0	1758	c.1594C>T	c.(1594-1596)Ccg>Tcg	p.P532S	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	532					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.P532P(1)|p.P532L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCAGTATACGGAGTGAATAAT	0.383000														34			5		0	0	0.000602214	0	0
TEX33	339669	broad.mit.edu	37	22	37398071	37398071	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:37398071C>T	uc003aqf.3	-	2	442	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	TEX33_uc003aqe.3_Missense_Mutation_p.R14Q	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	99																	CGAGGAGGATCGAGAGCCCGC	0.647000														8			7		0	0	8.12818e-05	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573489	140573489	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:140573489C>T	uc003lix.3	+	0	1538	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	455					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.617000														26			17		0	0	0.000175454	0	0
RASAL3	64926	broad.mit.edu	37	19	15569352	15569352	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:15569352G>A	uc002nbe.2	-	6	863	c.777C>T	c.(775-777)ccC>ccT	p.P259P		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	259	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAAAGCAGTGGGGCTCCCCCA	0.617000														3			5		0	0	3.59834e-05	0	0
C12orf53	196500	broad.mit.edu	37	12	6804720	6804720	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:6804720C>T	uc021quc.1	-	4	1042	c.703G>A	c.(703-705)Gga>Aga	p.G235R	C12orf53_uc001qqf.2_Missense_Mutation_p.G235R|C12orf53_uc001qqg.2_Missense_Mutation_p.G235R	NM_001244015	NP_001230944	Q8IYJ0	CL053_HUMAN	Homo sapiens chromosome 12 open reading frame 53 (C12orf53), transcript variant 3, mRNA.	235						integral to membrane				kidney(2)|large_intestine(1)|lung(3)	6						ACAGTGACTCCAGCCGGGGAC	0.701000														21			6		0	0	3.59834e-05	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904882	205904882	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:205904882C>T	uc001hdp.3	-	1	181	c.67G>A	c.(67-69)Gag>Aag	p.E23K	SLC26A9_uc001hdq.3_Missense_Mutation_p.E23K	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	23						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.D22E(1)|p.D22N(1)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TTCTCAAACTCATCGTCGAAG	0.552000														53			15		0	0	0.000422831	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72462080	72462080	+	Missense_Mutation	SNP	C	T	T	rs34022601	byFrequency	TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:72462080C>T	uc001jrg.3	+	2	535	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	ADAMTS14_uc001jrh.3_Missense_Mutation_p.R179C	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	179			R -> C (in dbSNP:rs34022601).		collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGGCCTCATCCGCACAGACAG	0.607000														19			11		0	0	0.00010058	0	0
TFF1	7031	broad.mit.edu	37	21	43783454	43783454	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr21:43783454G>A	uc002zax.1	-	1	188	c.148C>T	c.(148-150)Cag>Tag	p.Q50*		NM_003225	NP_003216	P04155	TFF1_HUMAN	Homo sapiens trefoil factor 1 (TFF1), mRNA.	50	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						TTTGCACACTGGGAGGGCGTG	0.532000														15			6		0	0	8.12818e-05	0	0
PGM5	5239	broad.mit.edu	37	9	70999394	70999394	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr9:70999394C>T	uc004agr.3	+	2	734	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	169					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TCCTGATCTCCGAATCGACCT	0.378000														14			20		0	0	0.000132079	0	0
DNAH5	1767	broad.mit.edu	37	5	13769652	13769652	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:13769652C>T	uc003jfd.2	-	56	9720	c.9678G>A	c.(9676-9678)gcG>gcA	p.A3226A	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3226	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3225D(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTTTTCTTTCGCTTCCAGTT	0.433000									Kartagener syndrome					68			47		0	0	0.000781405	0	0
GH1	2688	broad.mit.edu	37	17	61995207	61995207	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr17:61995207G>A	uc002jdj.3	-	3	431	c.369C>T	c.(367-369)ttC>ttT	p.F123F	GH1_uc002jdi.3_Silent_p.F108F|GH1_uc002jdk.3_Silent_p.F83F|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Intron	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	123					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGCTGTTGGCGAAGACACTCC	0.607000														13			23		0	0	0.00047179	0	0
SACS	26278	broad.mit.edu	37	13	23915544	23915544	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr13:23915544G>A	uc001uon.2	-	9	3060	c.2471C>T	c.(2470-2472)tCg>tTg	p.S824L	SACS_uc001uoo.2_Missense_Mutation_p.S677L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	824				QTCVELIRLRIPSLVILDDES -> FLFDEDSNGKLKMVAV LITSC (in Ref. 3; CAE45964).	cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGACTAACGATGGAATCCT	0.383000														47			29		0	0	0.000339439	0	0
HERC2	8924	broad.mit.edu	37	15	28422610	28422610	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr15:28422610G>A	uc001zbj.3	-	59	9315	c.9209C>T	c.(9208-9210)tCg>tTg	p.S3070L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3070				S -> W (in Ref. 3; AAO27475).	DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCGCCCCACGAAAACACTTT	0.468000														26			20		0	0	0.000295444	0	0
UNC79	57578	broad.mit.edu	37	14	94120313	94120313	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:94120313C>T	uc001ybv.1	+	35	5959	c.5876C>T	c.(5875-5877)tCg>tTg	p.S1959L	UNC79_uc001ybs.1_Missense_Mutation_p.S1937L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2114						integral to membrane		p.S1937L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACCTTAGCCTCGTCTCTGATG	0.507000														27			7		0	0	0.000442599	0	0
COL4A4	1286	broad.mit.edu	37	2	227886863	227886863	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:227886863C>T	uc021vxr.1	-	42	4218	c.4117G>A	c.(4117-4119)Gat>Aat	p.D1373N	COL4A4_uc021vxs.1_Missense_Mutation_p.D1370N	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1373	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGACAGTCATCCACATCTGCA	0.572000														65			21		0	0	0.000229342	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807832	15807832	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:15807832G>A	uc002nbl.3	+	12	1631	c.1512G>A	c.(1510-1512)ttG>ttA	p.L504L		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGCTGGAATTGATCATGCGCG	0.582000														12			9		0	0	0.000274275	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025232	50025232	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:50025232C>T	uc001rur.1	+	1	130	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	PRPF40B_uc001rup.1_Missense_Mutation_p.P45S|PRPF40B_uc001ruq.1_Missense_Mutation_p.P17S|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	23	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGGGCTACCCCCCATGAGTCA	0.592000														27			7		0	0	0.000157383	0	0
OR1F1	4992	broad.mit.edu	37	16	3254843	3254843	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr16:3254843C>T	uc010uwu.2	+	0	597	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGGTCATAATCCTTAGTGAGG	0.493000														22			19		0	0	0.000132079	0	0
OTOL1	131149	broad.mit.edu	37	3	161221394	161221394	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:161221394C>T	uc011bpb.2	+	3	1098	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	366	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAAAGATTCTCTATAATGACC	0.473000														6			10		0	0	0.000442599	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647250	34647250	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:34647250C>T	uc002kzz.3	+	6	996	c.974C>T	c.(973-975)cCt>cTt	p.P325L	KIAA1328_uc002lab.3_Missense_Mutation_p.P41L|KIAA1328_uc002lac.1_Missense_Mutation_p.P148L|KIAA1328_uc002lad.3_Missense_Mutation_p.P41L	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	325										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AACATGACCCCTCAACATCCT	0.473000														26			11		0	0	0.000422831	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208773276	208773276	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:208773276G>A	uc002vcl.2	-	5	2402	c.1912C>T	c.(1912-1914)Caa>Taa	p.Q638*	PLEKHM3_uc002vcm.2_Silent_p.F652F	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	638					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGATCTGTTGAAGGAGGTAT	0.443000														25			24		0	0	0.00106085	0	0
abParts	0	broad.mit.edu	37	14	107219119	107219119	+	RNA	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr14:107219119C>T	uc021ser.1	-	11		c.745G>A								Parts of antibodies, mostly variable regions.																		CCAGCTCAGCCCAAACTCCAT	0.512000														16			11		0	0	0.000219431	0	0
TLR6	10333	broad.mit.edu	37	4	38829222	38829222	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr4:38829222G>A	uc010ifg.2	-	1	1994	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	TLR6_uc003gtm.3_Missense_Mutation_p.R625W	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	625					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCCTGCGCCGAGTCTGGGTC	0.512000														40			8		0	0	0.000274275	0	0
AURKA	6790	broad.mit.edu	37	20	54956548	54956548	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:54956548C>T	uc002xxe.1	-	6	903	c.646G>A	c.(646-648)Gga>Aga	p.G216R	AURKA_uc002xxf.1_Missense_Mutation_p.G216R|AURKA_uc002xxg.1_Missense_Mutation_p.G216R|AURKA_uc002xxh.1_Missense_Mutation_p.G216R|AURKA_uc002xxi.1_Missense_Mutation_p.G216R|AURKA_uc002xxj.1_Missense_Mutation_p.G216R|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Missense_Mutation_p.G216R	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	216	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TAAACTGTTCCAAGTGGTGCA	0.363000														26			25		0	0	0.00047179	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461145	48461146	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:48461145_48461146GG>AA	uc003csw.2	-	10	2819_2820	c.2549_2550CC>TT	c.(2548-2550)ccc>cTT	p.P850L	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Missense_Mutation_p.P850L|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	850					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGTCCGCCTCGGGCAGCTCGCC	0.688000														6			4		0	0	6.4e-05	0	0
SIM1	6492	broad.mit.edu	37	6	100841753	100841753	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:100841753G>A	uc003pqj.4	-	9	1647	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	SIM1_uc021zdg.1_Missense_Mutation_p.H394Y|SIM1_uc010kcu.3_Missense_Mutation_p.H394Y	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	394	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTTTCTGTGTGAAATCCCGAA	0.478000														10			11		0	0	0.000151284	0	0
C4B	721	broad.mit.edu	37	6	31962439	31962439	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:31962439C>T	uc011doy.2	+	20	2808	c.2757C>T	c.(2755-2757)ttC>ttT	p.F919F	C4B_uc011doz.2_Silent_p.F919F	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	919					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GAGGGTCCTTCGAATTCCCTG	0.627000														27			16		0	0	0.000586117	0	0
ST18	9705	broad.mit.edu	37	8	53073958	53073958	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr8:53073958C>T	uc003xqz.2	-	8	1727	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	ST18_uc011ldq.1_Missense_Mutation_p.R171Q|ST18_uc011ldr.1_Missense_Mutation_p.R489Q|ST18_uc011lds.1_Missense_Mutation_p.R429Q|ST18_uc003xra.2_Missense_Mutation_p.R524Q|ST18_uc003xrb.2_Missense_Mutation_p.R524Q	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	524						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R524Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGTGTTTTTCGTCCTTGCAC	0.438000														32			33		0	0	0.000814825	0	0
CABLES1	91768	broad.mit.edu	37	18	20815896	20815896	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:20815896C>T	uc002kuc.2	+	5	1223	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	TMEM241_uc010xaq.2_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Missense_Mutation_p.A143V	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	408	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACAAATGCCTTTGGAGCC	0.512000														62			29		0	0	0.000339439	0	0
ZNF229	7772	broad.mit.edu	37	19	44933745	44933745	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:44933745G>A	uc002oze.1	-	5	1645	c.1211C>T	c.(1210-1212)cCa>cTa	p.P404L	ZNF229_uc010ejk.1_Missense_Mutation_p.P58L|ZNF229_uc010ejl.1_Missense_Mutation_p.P398L	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCATTTATATGGTTTCTCTCC	0.522000														29			18		0	0	0.000958276	0	0
NEBL	10529	broad.mit.edu	37	10	21141545	21141545	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr10:21141545C>T	uc001iqi.3	-	9	1334	c.937G>A	c.(937-939)Gga>Aga	p.G313R	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	313					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGATACATTCCTTTGTTTTCC	0.398000														4			10		0	0	0.000219431	0	0
NLRP11	204801	broad.mit.edu	37	19	56321408	56321408	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:56321408C>T	uc010ygf.2	-	4	1279	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	NLRP11_uc002qlz.3_Missense_Mutation_p.E91K|NLRP11_uc002qmb.3_Missense_Mutation_p.E91K|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	190	NACHT.						ATP binding	p.E190K(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGGTTTATTTCGTGAGCAGTG	0.493000														19			9		0	0	0.000673444	0	0
CNST	163882	broad.mit.edu	37	1	246810825	246810825	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:246810825G>A	uc001ibp.3	+	8	1700	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	CNST_uc001ibo.4_Missense_Mutation_p.R441H	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	441					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGCTGTGACCGTATACCTCCT	0.502000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			46		0	0	0.000781405	0	0
MYH15	22989	broad.mit.edu	37	3	108129532	108129532	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:108129532C>T	uc003dxa.1	-	31	4510	c.4453G>A	c.(4453-4455)Gaa>Aaa	p.E1485K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1485						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCTGAACTTCCTTCTGAGAG	0.577000														21			8		0	0	0.000274275	0	0
FMNL2	114793	broad.mit.edu	37	2	153475652	153475652	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:153475652C>T	uc002tye.3	+	13	1974	c.1607C>T	c.(1606-1608)tCa>tTa	p.S536L	FMNL2_uc010fob.3_5'Flank|FMNL2_uc002tyf.3_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	536	Pro-rich.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTGCCTCCCTCATCAGACACA	0.532000														14			5		0	0	0.000602214	0	0
SLC40A1	30061	broad.mit.edu	37	2	190440039	190440039	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:190440039C>T	uc002uqp.4	-	2	470	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	SLC40A1_uc002uqq.2_Missense_Mutation_p.R40Q	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	40					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GTGCCACATCCGATCTCCCTT	0.448000														32			7		0	0	8.12818e-05	0	0
ARSH	347527	broad.mit.edu	37	X	2933279	2933279	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:2933279C>T	uc011mhj.2	+	3	609	c.609C>T	c.(607-609)ctC>ctT	p.L203L		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	203						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTGCTCTCCTCGCCTTTCTGT	0.478000														1			8		0	0	0.000157383	0	0
TANC1	85461	broad.mit.edu	37	2	160084340	160084340	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:160084340T>A	uc002uag.3	+	24	4188	c.3914T>A	c.(3913-3915)aTg>aAg	p.M1305K	TANC1_uc010zcm.2_Missense_Mutation_p.M1297K|TANC1_uc010fom.1_Missense_Mutation_p.M1111K|TANC1_uc010fon.3_Missense_Mutation_p.M149K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1305						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAGGGAAAATGAAAGAGGCA	0.433000														12			4		0	0	3.59834e-05	0	0
CNTN4	152330	broad.mit.edu	37	3	2908551	2908551	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:2908551G>A	uc003bpc.3	+	7	909	c.570G>A	c.(568-570)ggG>ggA	p.G190G	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.G190G|CNTN4_uc003bpd.1_Silent_p.G190G	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	190	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.G190G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGATGTTGGGAATTATACCT	0.408000														31			9		0	0	0.000442599	0	0
EPHB3	2049	broad.mit.edu	37	3	184297636	184297636	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:184297636C>T	uc003foz.3	+	10	2523	c.2086C>T	c.(2086-2088)Cgg>Tgg	p.R696W		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	696	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CAATATAATCCGGCTCGAGGG	0.582000														22			14		0	0	0.000219431	0	0
PAK7	57144	broad.mit.edu	37	20	9523346	9523346	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:9523346T>G	uc002wnl.2	-	9	2436	c.1891A>C	c.(1891-1893)Atc>Ctc	p.I631L	PAK7_uc002wnk.2_Missense_Mutation_p.I631L|PAK7_uc002wnj.2_Missense_Mutation_p.I631L|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	631	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G630W(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCACCATGATCCCGAGGGAC	0.517000														32			5		0	0	0.000602214	0	0
ZNF493	284443	broad.mit.edu	37	19	21588653	21588653	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr19:21588653C>T	uc002npw.3	+	2	367	c.248C>T	c.(247-249)cCc>cTc	p.P83L	ZNF493_uc002npu.3_Missense_Mutation_p.P84L|ZNF493_uc002npx.3_Intron|ZNF493_uc002npy.3_5'UTR	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R83Q(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTAGTCAAACCCCCAGGTAGG	0.418000														25			4		0	0	0.00024832	0	0
SYT12	91683	broad.mit.edu	37	11	66807332	66807333	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:66807332_66807333CC>TT	uc009yrl.3	+	3	509_510	c.279_280CC>TT	c.(277-282)agccgc>agTTgc	p.R94C	SYT12_uc001oju.3_Missense_Mutation_p.R94C	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	94						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GACCACCCAGCCGCAAAGGCAG	0.634000														31			18		0	0	6.4e-05	0	0
SPECC1L	23384	broad.mit.edu	37	22	24718497	24718497	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:24718497A>G	uc002zzw.3	+	4	1852	c.1549A>G	c.(1549-1551)Agc>Ggc	p.S517G	SPECC1L_uc002zzv.4_Missense_Mutation_p.S517G|SPECC1L_uc011ajq.2_Missense_Mutation_p.S517G|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	517					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GCAGCATTTAAGCAATACTTT	0.443000														35			18		0	0	0.000175454	0	0
ZNF182	7569	broad.mit.edu	37	X	47837101	47837101	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:47837101T>C	uc004dir.3	-	6	731	c.385A>G	c.(385-387)Att>Gtt	p.I129V	ZNF182_uc004dis.3_Missense_Mutation_p.I110V|ZNF182_uc004dit.3_Missense_Mutation_p.I129V	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T128K(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTGGTGATAATTGTTTTCTTG	0.393000														9			20		0	0	0.000132079	0	0
SLC24A1	9187	broad.mit.edu	37	15	65946287	65946287	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr15:65946287C>T	uc010ujf.2	+	9	3457	c.3170C>T	c.(3169-3171)tCt>tTt	p.S1057F	SLC24A1_uc010uje.1_Intron|SLC24A1_uc010ujg.2_Missense_Mutation_p.S1027F|SLC24A1_uc010ujh.2_Missense_Mutation_p.S1039F|SLC24A1_uc010uji.2_Missense_Mutation_p.S384F	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	1057					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TTTGTGATCTCTTCAATTGCG	0.383000														124			39		0	0	0.000319135	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322951	61322951	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr18:61322951G>A	uc002lji.3	-	7	1257	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Silent_p.F319F	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	371					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCCTTATGAAGAATAGGAAAG	0.443000														38			18		0	0	0.000175454	0	0
SLC6A6	6533	broad.mit.edu	37	3	14485187	14485187	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:14485187G>A	uc010heg.3	+	2	344	c.45G>A	c.(43-45)aaG>aaA	p.K15K	SLC6A6_uc010hee.1_Silent_p.K15K|SLC6A6_uc003byp.3_Silent_p.K15K|SLC6A6_uc010hef.1_Non-coding_Transcript|SLC6A6_uc003byq.3_Silent_p.K15K|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	15					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ATTTCCACAAGGACATCCTGA	0.562000														32			10		0	0	0.000673444	0	0
EPHB2	2048	broad.mit.edu	37	1	23222924	23222925	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:23222924_23222925CT>TC	uc009vqj.1	+	8	1863_1864	c.1718_1719CT>TC	c.(1717-1719)gct>gTC	p.A573V	EPHB2_uc001bge.3_Missense_Mutation_p.A574V|EPHB2_uc001bgf.3_Missense_Mutation_p.A573V|EPHB2_uc010odu.2_Intron	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	573					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTTGAGCGTGCTGACTCGGAGT	0.604000														15			7		0	0	6.4e-05	0	0
SDK1	221935	broad.mit.edu	37	7	4201469	4201469	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:4201469C>T	uc003smx.3	+	31	4920	c.4781C>T	c.(4780-4782)tCt>tTt	p.S1594F	SDK1_uc010kso.3_Missense_Mutation_p.S870F|SDK1_uc003smy.3_Missense_Mutation_p.S81F	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1594	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCACGTCCTCTGTCCTGATA	0.562000														21			12		0	0	0.000422831	0	0
MAST2	23139	broad.mit.edu	37	1	46501426	46501426	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:46501426G>A	uc001cov.3	+	28	5368	c.5085G>A	c.(5083-5085)aaG>aaA	p.K1695K	MAST2_uc001cow.3_Silent_p.K1694K|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1695					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCAGCCTAAGAACCTGTCTC	0.592000														12			9		0	0	0.000442599	0	0
MED12L	116931	broad.mit.edu	37	3	151105632	151105632	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:151105632C>A	uc003eyp.3	+	34	5147	c.5018C>A	c.(5017-5019)cCg>cAg	p.P1673Q	MED12L_uc011bnz.2_Missense_Mutation_p.P1533Q|MED12L_uc003eyy.1_Missense_Mutation_p.P836Q	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P1673L(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGTGTCCCCGTGGGACTTG	0.527000														33			4		0.00024832	0.00279976	0.00024832	1	0
USH2A	7399	broad.mit.edu	37	1	215987101	215987101	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:215987101C>T	uc001hku.1	-	48	10103	c.9716G>A	c.(9715-9717)gGg>gAg	p.G3239E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3239					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCGTAATACCCAGAGCAGCA	0.423000										HNSCC(13;0.011)				22			5		0	0	0.000602214	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821039	35821039	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chrX:35821039C>T	uc010ngt.1	+	1	1005	c.726C>T	c.(724-726)atC>atT	p.I242I	MAGEB16_uc022bus.1_Silent_p.I242I	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	242	MAGE.							p.A241V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGCACTTCATCTTTGGAGAGC	0.488000														5			5		0	0	3.59834e-05	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090952	143090952	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:143090952G>A	uc003qjd.3	-	4	5667	c.4924C>T	c.(4924-4926)Cgg>Tgg	p.R1642W		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTTGTTGTCCGCAGACTGGGG	0.502000														5			8		0	0	0.000157383	0	0
GLRA1	2741	broad.mit.edu	37	5	151239414	151239414	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr5:151239414G>A	uc003lut.3	-	3	695	c.408C>T	c.(406-408)ttC>ttT	p.F136F	GLRA1_uc003lur.3_Silent_p.F136F|GLRA1_uc003lus.3_Silent_p.F53F	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	136					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATCTCATGGAAGTGGGCCC	0.522000														19			21		0	0	0.000132079	0	0
APOB	338	broad.mit.edu	37	2	21236077	21236077	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:21236077T>C	uc002red.3	-	24	4299	c.4171A>G	c.(4171-4173)Atg>Gtg	p.M1391V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1391					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.H1390N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAGCCTTCATGTGGTAACGA	0.532000														45			56		0	0	0.000781405	0	0
FLNB	2317	broad.mit.edu	37	3	58107012	58107012	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr3:58107012G>A	uc003djj.2	+	19	3073	c.2908G>A	c.(2908-2910)Ggg>Agg	p.G970R	FLNB_uc010hne.2_Missense_Mutation_p.G970R|FLNB_uc003djk.2_Missense_Mutation_p.G970R|FLNB_uc010hnf.2_Missense_Mutation_p.G970R|FLNB_uc003djl.2_Missense_Mutation_p.G801R|FLNB_uc003djm.2_Missense_Mutation_p.G801R	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	970					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGATACCAGGGGGGCAGGAGG	0.577000														47			12		0	0	0.000219431	0	0
KIF21B	23046	broad.mit.edu	37	1	200974494	200974494	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:200974494G>A	uc001gvs.2	-	4	991	c.674C>T	c.(673-675)tCc>tTc	p.S225F	KIF21B_uc009wzl.2_Missense_Mutation_p.S225F|KIF21B_uc001gvr.2_Missense_Mutation_p.S225F|KIF21B_uc010ppn.2_Missense_Mutation_p.S225F|KIF21B_uc001gvt.1_Missense_Mutation_p.S8F	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	225	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGGCGTGGGAGCGTGAGCT	0.642000														14			13		0	0	0.000422831	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604530	160604530	+	Silent	SNP	G	A	A			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:160604530G>A	uc001fwl.4	-	2	919	c.573C>T	c.(571-573)tcC>tcT	p.S191S	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	191	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACAGGAGGTGGGAGCTGTTGG	0.587000														20			14		0	0	0.000422831	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285733	248285733	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:248285733C>T	uc001idy.1	+	0	296	c.296C>T	c.(295-297)tCc>tTc	p.S99F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		TTTTCCTTCTCCTACTGTGGG	0.418000														75			10		0	0	0.000673444	0	0
TPCN1	53373	broad.mit.edu	37	12	113724876	113724876	+	Silent	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr12:113724876C>T	uc001tux.3	+	19	2001	c.1827C>T	c.(1825-1827)gtC>gtT	p.V609V	TPCN1_uc001tuw.3_Silent_p.V537V|TPCN1_uc010syt.1_Silent_p.V469V	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	537						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCATCGTGGTCCTGCGCCCCC	0.612000														24			8		0	0	0.000274275	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137497	40137497	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr11:40137497C>T	uc021qgf.1	-	0	346	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	LRRC4C_uc001mxc.1_Missense_Mutation_p.E112K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E112K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E116K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E112K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	116					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCCCAATTTCAATGGTTCTG	0.428000														23			6		0	0	0.000157383	0	0
TTLL10	254173	broad.mit.edu	37	1	1118394	1118394	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr1:1118394C>T	uc001acy.2	+	10	1206	c.1055C>T	c.(1054-1056)cCg>cTg	p.P352L	TTLL10_uc010nyg.1_Missense_Mutation_p.P352L|TTLL10_uc001acz.2_Missense_Mutation_p.P279L	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	352	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACAAGACGCCGTTCCGGGGG	0.706000														5			4		0	0	8.12818e-05	0	0
ERBB4	2066	broad.mit.edu	37	2	212495299	212495299	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr2:212495299C>T	uc002veg.1	-	16	2065	c.1967G>A	c.(1966-1968)gGa>gAa	p.G656E	ERBB4_uc002veh.1_Missense_Mutation_p.G656E|ERBB4_uc010zji.1_Missense_Mutation_p.G646E|ERBB4_uc010zjj.1_Missense_Mutation_p.G646E|ERBB4_uc010fut.1_Missense_Mutation_p.G656E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	656					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACCAATTACTCCAGCTGCAAT	0.393000										TSP Lung(8;0.080)				39			7		0	0	0.000274275	0	0
EFHC1	114327	broad.mit.edu	37	6	52319006	52319006	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:52319006delC	uc003pap.4	+	4	1052	c.837delC	c.(835-837)cacfs	p.H279fs	EFHC1_uc011dwv.1_Frame_Shift_Del_p.H188fs|EFHC1_uc011dww.2_Frame_Shift_Del_p.H260fs	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	279	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GAGAGGTCCACGAACGGAATG	0.433													---	30	---	---	27	---					
SIM1	6492	broad.mit.edu	37	6	100838735	100838735	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr6:100838735delT	uc003pqj.4	-	10	2270	c.1803delA	c.(1801-1803)aaafs	p.K601fs	SIM1_uc021zdg.1_Frame_Shift_Del_p.K601fs|SIM1_uc010kcu.3_Frame_Shift_Del_p.K601fs	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	601	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACAGGGAGTGTTTTTTCCCAG	0.483													---	27	---	---	7	---					
PPP1R35	221908	broad.mit.edu	37	7	100033871	100033871	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr7:100033871delC	uc003uuy.1	-	0	224	c.127delG	c.(127-129)gacfs	p.D43fs		NM_145030	NP_659467	Q8TAP8	CG047_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 35 (PPP1R35), mRNA.	43	Pro-rich.																AGGCTCAAGTCCAGGCCGGGC	0.801													---	4	---	---	2	---					
COL20A1	57642	broad.mit.edu	37	20	61943784	61943784	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr20:61943784delG	uc011aau.2	+	14	1916	c.1816delG	c.(1816-1818)gggfs	p.G606fs	COL20A1_uc011aav.2_Frame_Shift_Del_p.G427fs	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	606	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGAGGCTCCTGGGAACGCCAC	0.672													---	4	---	---	2	---					
RBFOX2	23543	broad.mit.edu	37	22	36152169	36152169	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A2JP-06A-11D-A19A-08	TCGA-D3-A2JP-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7a31a49-d8ae-4f47-ae7f-d9aebfb482a1	4c97cfe7-dd20-41c9-be79-1f017cf0909d	g.chr22:36152169delA	uc003aon.4	-	10	1244	c.1132delT	c.(1132-1134)tacfs	p.Y378fs	RBFOX2_uc003aom.4_Frame_Shift_Del_p.Y285fs|RBFOX2_uc003aol.4_Frame_Shift_Del_p.Y303fs|RBFOX2_uc003aoj.4_Frame_Shift_Del_p.Y307fs|RBFOX2_uc003aok.4_Intron|RBFOX2_uc003aoh.4_Intron|RBFOX2_uc010gwu.3_Frame_Shift_Del_p.Y283fs|RBFOX2_uc003aoo.4_Frame_Shift_Del_p.Y377fs|RBFOX2_uc021wok.1_Non-coding_Transcript	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 2 (RBFOX2), transcript variant 5, mRNA.	317					RNA splicing|estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation	cytoplasm|nucleus	RNA binding|nucleotide binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						TCAGCACCGTAAAATCCGTCC	0.438													---	4	---	---	2	---